Antonella Insalaco1,2, Gian Marco Moneta3,4, Manuela Pardeo3,4, Ivan Caiello3,4, Virginia Messia3,4, Claudia Bracaglia3,4, Chiara Passarelli3,4, Fabrizio De Benedetti3,4. 1. 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. antonella.insalaco@opbg.net. 2. 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. antonella.insalaco@opbg.net. 3. 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. 4. 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.
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.
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 whitepatients 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.
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