期刊
JOURNAL OF RHEUMATOLOGY
卷 46, 期 5, 页码 523-526出版社
J RHEUMATOL PUBL CO
DOI: 10.3899/jrheum.180045
关键词
INTERFERON; ADA2 DEFICIENCY; DISEASE BIOMARKER
类别
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.
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