Figure 1. Pedigree analysis of 10 DADA2 carriers presenting with DADA2 clinical phenotype.

A. Pedigrees of seven kindreds showing familial segregation of ADA2 missense variants. M represents mutant. Individuals with unknown genotype are labeled ‘?’. Black filled symbols represent individuals with 2 pathogenic alleles, half-filled symbols represent individuals with 1 pathogenic allele ‘P’ represents individuals carrying 1 pathogenic allele with a DADA2 phenotype. B. Schematic representation of the functional domains of the ADA2 protein and the location of the ADA2 variants identified in our cohort (labeled ‘*’), in previous studies (labeled ‘~’) and in literature (labeled ‘§’).