Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by deleterious ADA2 variants. The frequency of these variants in the general population, and hence the expected disease prevalence, remain unknown.We aimed to characterize the functional impact and carrier frequency of ADA2 variants.We performed functional studies and in silico analysis on 163 ADA2 variants, including DADA2-associated variants and population...