Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

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.

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.

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.

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.

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.

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.

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.

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.