Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 …
H Nihira, K Izawa, M Ito, H Umebayashi… - Journal of Allergy and …, 2021 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive
inflammatory disease caused by loss-of-function mutations in both alleles of the ADA2 gene.
Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis
nodosa, but large phenotypic variability has been reported, and the pathogenesis of DADA2
remains unclear. Objectives This study sought to assess the clinical and genetic
characteristics of Japanese patients with DADA2 and to gain insight into the pathogenesis of …
inflammatory disease caused by loss-of-function mutations in both alleles of the ADA2 gene.
Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis
nodosa, but large phenotypic variability has been reported, and the pathogenesis of DADA2
remains unclear. Objectives This study sought to assess the clinical and genetic
characteristics of Japanese patients with DADA2 and to gain insight into the pathogenesis of …
