This pattern is seen with NOD2 mutations in Blau syndrome and with PLCƔ2 mutations in ‘autoinflammation and phospholipase C gamma 2 associated antibody deficiency and immune dysregulation’ (APLAID) and ‘phospholipase C gamma 2 associated antibody deficiency and immune dysregulation’ (PLAID). The gene discussed is PLCG2; the disease is agammaglobulinemia.