RT Journal Article
SR Electronic
T1 Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 523
OP 526
DO 10.3899/jrheum.180045
VO 46
IS 5
A1 Insalaco, Antonella
A1 Moneta, Gian Marco
A1 Pardeo, Manuela
A1 Caiello, Ivan
A1 Messia, Virginia
A1 Bracaglia, Claudia
A1 Passarelli, Chiara
A1 De Benedetti, Fabrizio
YR 2019
UL http://www.jrheum.org/content/46/5/523.abstract
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.