{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T22:25:25Z","timestamp":1793485525896,"version":"4.5.0"},"reference-count":19,"publisher":"The Journal of Rheumatology","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>Expression levels of IS were determined by quantitative real-time PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>Five white patients were identified as carrying <jats:italic>CECR1<\/jats:italic> mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>Our data confirm the high variability of DADA2 and suggest type I IS as a biomarker of disease activity.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.180045","type":"journal-article","created":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T17:35:17Z","timestamp":1547573717000},"page":"523-526","source":"Crossref","is-referenced-by-count":50,"title":["Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency"],"prefix":"10.3899","volume":"46","author":[{"given":"Antonella","family":"Insalaco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian 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