Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency
Year: 2019
Type: article
Study design: Case Report
Abstract: 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: 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.
Source: The Journal of Rheumatology
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2910300319