Pedigree analysis of 10 DADA2 carriers presenting with DADA2 clinical phenotype. (A) Pedigrees of seven kindreds showing familial segregation of ADA2 missense variants. Individuals with unknown genotype are labeled “?”. Black filled symbols represent individuals with two pathogenic alleles, half-filled symbols represent individuals with one pathogenic allele, and “P” represents individuals carrying one 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 “§”).