The rare autosomal recessive autoinflammatory disease DADA2 was first described in 2014, and 116 pathogenic and likely pathogenic variants of the causal gene ADA2 have been identified since. Yan et al. have now screened available exome sequencing data for ADA2 variants to estimate the frequency of genetic carriers and the prevalence of DADA2 in China.

Analysis of data from 69,413 individuals, excluding persons with a DADA2 diagnosis, identified 30 exon variants that had been previously associated with DADA2, as well as 8 yet unknown loss-of-function mutations and 12 missense mutations that were newly shown in vitro to reduce the ADA2 enzymatic activity by over 25%.