In:
The Journal of Rheumatology, The Journal of Rheumatology, Vol. 46, No. 5 ( 2019-05), p. 523-526
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0315-162X
,
1499-2752
DOI:
10.3899/jrheum.180045
Language:
English
Publisher:
The Journal of Rheumatology
Publication Date:
2019
Permalink