Research ArticleArticle
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
Antonella Insalaco, Gian Marco Moneta, Manuela Pardeo, Ivan Caiello, Virginia Messia, Claudia Bracaglia, Chiara Passarelli and Fabrizio De Benedetti
The Journal of Rheumatology January 2019, jrheum.180045; DOI: https://doi.org/10.3899/jrheum.180045
Antonella Insalaco
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Gian Marco Moneta
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Manuela Pardeo
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Ivan Caiello
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Virginia Messia
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Claudia Bracaglia
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Chiara Passarelli
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Fabrizio De Benedetti
From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy. A. Insalaco, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; G.M. Moneta, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; M. Pardeo, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; I. Caiello, BSc, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; V. Messia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Bracaglia, MD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù; C. Passarelli, PhD, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù; F. De Benedetti, MD, PhD, Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù. Address correspondence to Dr. A. Insalaco, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy. E-mail: antonella.insalaco@opbg.net. Accepted for publication September 13, 2018.
Abstract
Objective An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency (DADA2). We describe the clinical course of 5 such patients and the role of IS as a marker of disease activity and severity.
Methods Expression levels of IS were determined by quantitative real-time PCR.
Results Five white patients were identified as carrying CECR1 mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment.
Conclusion Our data confirm the high variability of DADA2 and suggest type I IS as a biomarker of disease activity.
In this issue
The Journal of Rheumatology
Vol. 51, Issue 4
1 Apr 2024
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
Antonella Insalaco, Gian Marco Moneta, Manuela Pardeo, Ivan Caiello, Virginia Messia, Claudia Bracaglia, Chiara Passarelli, Fabrizio De Benedetti
The Journal of Rheumatology Jan 2019, jrheum.180045; DOI: 10.3899/jrheum.180045
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
Antonella Insalaco, Gian Marco Moneta, Manuela Pardeo, Ivan Caiello, Virginia Messia, Claudia Bracaglia, Chiara Passarelli, Fabrizio De Benedetti
The Journal of Rheumatology Jan 2019, jrheum.180045; DOI: 10.3899/jrheum.180045