Genomic analysis of P1 and P2 did not reveal mutations in known genes associated with primary immunodeficiencies, but P3 carries a heterozygous loss of function mutation in NFKB1 associated with the clinical and immunological phenotype previously described for NFKB1 haploinsufficiency (4, 36–38). The gene discussed is NFKB1; the disease is inborn error of immunity.