PT  - JOURNAL ARTICLE
AU  - Antonella Insalaco
AU  - Gian Marco Moneta
AU  - Manuela Pardeo
AU  - Ivan Caiello
AU  - Virginia Messia
AU  - Claudia Bracaglia
AU  - Chiara Passarelli
AU  - Fabrizio De Benedetti
TI  - Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
AID  - 10.3899/jrheum.180045
DP  - 2019 May 01
TA  - The Journal of Rheumatology
PG  - 523--526
VI  - 46
IP  - 5
4099  - http://www.jrheum.org/content/46/5/523.short
4100  - http://www.jrheum.org/content/46/5/523.full
SO  - J Rheumatol2019 May 01; 46
AB  - 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.