Research ArticleArticle
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization
Denise Lasigliè, Anna Mensa-Vilaro, Denise Ferrera, Roberta Caorsi, Federica Penco, Giuseppe Santamaria, Marco Di Duca, Giulia Amico, Kenji Nakagawa, Francesca Antonini, Alberto Tommasini, Rita Consolini, Antonella Insalaco, Marco Cattalini, Laura Obici, Romina Gallizzi, Francesca Santarelli, Genny del Zotto, Mariasavina Severino, Anna Rubartelli, Roberto Ravazzolo, Alberto Martini, Isabella Ceccherini, Ryuta Nishikomori, Marco Gattorno, Juan I. Arostegui and Silvia Borghini
The Journal of Rheumatology September 2017, jrheum.170041; DOI: https://doi.org/10.3899/jrheum.170041
Denise Lasigliè
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Anna Mensa-Vilaro
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Denise Ferrera
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Roberta Caorsi
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Federica Penco
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Giuseppe Santamaria
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Marco Di Duca
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Giulia Amico
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Kenji Nakagawa
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Francesca Antonini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Alberto Tommasini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Rita Consolini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Antonella Insalaco
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Marco Cattalini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Laura Obici
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Romina Gallizzi
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Francesca Santarelli
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Genny del Zotto
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Mariasavina Severino
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Anna Rubartelli
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Roberto Ravazzolo
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Alberto Martini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Isabella Ceccherini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Ryuta Nishikomori
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Marco Gattorno
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Juan I. Arostegui
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
Silvia Borghini
From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA). D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University. Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it. Accepted for publication June 30, 2017.
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- Denise Lasigliè,
- Anna Mensa-Vilaro,
- Denise Ferrera,
- Roberta Caorsi,
- Federica Penco,
- Giuseppe Santamaria,
- Marco Di Duca,
- Giulia Amico,
- Kenji Nakagawa,
- Francesca Antonini,
- Alberto Tommasini,
- Rita Consolini,
- Antonella Insalaco,
- Marco Cattalini,
- Laura Obici,
- Romina Gallizzi,
- Francesca Santarelli,
- Genny del Zotto,
- Mariasavina Severino,
- Anna Rubartelli,
- Roberto Ravazzolo,
- Alberto Martini,
- Isabella Ceccherini,
- Ryuta Nishikomori,
- Marco Gattorno,
- Juan I. Arostegui and
- Silvia Borghini
- From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell’Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L’Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic–Institut d’Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Supported by Giovani Ricercatori–Ricerca Finalizzata grant no. GR-2010-2315933 to SB, and partially funded by the Italian Ministry of Health through both “Cinque per mille” and Ricerca Corrente to the Gaslini Institute, Ricerca Telethon GGP14144 to MG and CERCA Programme/Generalitat de Catalunya (JIA), SAF2015-68472-C2-1-R grant from the Spanish Ministry of Economy and Competitiveness and Fondo Europeo de Desarrollo Regional (JIA) and AC15/00027 grant from the Instituto de Salud Carlos III/Transnational Research Projects on Rare Diseases (JIA).
D. Lasigliè, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; D. Ferrera, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; G. Santamaria, BSc, UOC Genetica Medica, Istituto Giannina Gaslini; G. Amico, MSc, UOC Genetica Medica, Istituto Giannina Gaslini; R. Ravazzolo, MD, UOC Genetica Medica, Istituto Giannina Gaslini; I. Ceccherini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; S. Borghini, PhD, UOC Genetica Medica, Istituto Giannina Gaslini; M. Di Duca, BSc, Laboratorio Fisiopatologia dell’Uremia, Istituto Giannina Gaslini; F. Penco, PhD, UO Pediatria II Istituto Giannina Gaslini; R. Caorsi, MD, UO Pediatria II Istituto Giannina Gaslini; A. Martini, MD, UO Pediatria II Istituto Giannina Gaslini; M. Gattorno, MD, UO Pediatria II Istituto Giannina Gaslini; A. Mensa-Vilaro, MD, Hospital Clínic-IDIBAPS; J.I. Arostegui, MD, Department of Immunology, Hospital Clínic-IDIBAPS; A. Tommasini, MD, PhD, Institute for Maternal and Child Health, IRCCS Burlo Garofolo; F. Antonini, MSc, Core facilities, Istituto Giannina Gaslini; G. del Zotto, PhD, Core facilities, Istituto Giannina Gaslini; R. Consolini, MD, Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa; A. Insalaco, MD, Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, IRCCS; M. Cattalini, MD, Pediatric Clinic, ASST Spedali Civili and University of Brescia; L. Obici, MD, Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo; R. Gallizzi, MD, Department of Pediatrics, Azienda G. Martino, University of Messina; F. Santarelli, MD, Department of Pediatrics, Immunology and Rheumatology, University of Torino; A. Rubartelli, MD, Cell Biology Unit, IRCSS AOU San Martino; M. Severino, MD, Neuroradiology Unit, Istituto Giannina Gaslini; R. Nishikomori, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University; K. Nakagawa, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Kyoto University.
Address correspondence to S. Borghini, UOC Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genoa, Italy. E-mail: s.borghini@unige.it.
Accepted for publication June 30, 2017.
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The Journal of Rheumatology
Vol. 51, Issue 4
1 Apr 2024
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization
Denise Lasigliè, Anna Mensa-Vilaro, Denise Ferrera, Roberta Caorsi, Federica Penco, Giuseppe Santamaria, Marco Di Duca, Giulia Amico, Kenji Nakagawa, Francesca Antonini, Alberto Tommasini, Rita Consolini, Antonella Insalaco, Marco Cattalini, Laura Obici, Romina Gallizzi, Francesca Santarelli, Genny del Zotto, Mariasavina Severino, Anna Rubartelli, Roberto Ravazzolo, Alberto Martini, Isabella Ceccherini, Ryuta Nishikomori, Marco Gattorno, Juan I. Arostegui, Silvia Borghini
The Journal of Rheumatology Sep 2017, jrheum.170041; DOI: 10.3899/jrheum.170041
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization
Denise Lasigliè, Anna Mensa-Vilaro, Denise Ferrera, Roberta Caorsi, Federica Penco, Giuseppe Santamaria, Marco Di Duca, Giulia Amico, Kenji Nakagawa, Francesca Antonini, Alberto Tommasini, Rita Consolini, Antonella Insalaco, Marco Cattalini, Laura Obici, Romina Gallizzi, Francesca Santarelli, Genny del Zotto, Mariasavina Severino, Anna Rubartelli, Roberto Ravazzolo, Alberto Martini, Isabella Ceccherini, Ryuta Nishikomori, Marco Gattorno, Juan I. Arostegui, Silvia Borghini
The Journal of Rheumatology Sep 2017, jrheum.170041; DOI: 10.3899/jrheum.170041