Key result
Etanercept is associated with markedly lower type I interferon scores, reflecting DADA2 disease activity.
Why the study?
An upregulation of type I interferon stimulated genes was described in patients with adenosine deaminase 2 deficiency, but its role as a marker of disease activity and severity needed clarification.
Does treatment reduce type I interferon signature in patients with ADA2 deficiency?
Observational (n=5)
No
Does treatment reduce type I interferon signature in patients with ADA2 deficiency?
Type I interferon signature may serve as a biomarker of disease activity in patients with ADA2 deficiency.
IFN score may track DADA2 activity and treatment response; leaves open validation as a biomarker in larger cohorts.
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.
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Insalaco et al. (2019) conducted an observational in Adenosine deaminase 2 deficiency (DADA2) (n=5). Etanercept vs. Baseline (pre-treatment) was evaluated on Type I interferon score (IS) before and after treatment.
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