AIRE and autoimmune disease: Autoimmune polyglandular syndrome type 1 (APS-1; MIM 240300) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene, that is characterised by autoimmune adrenal insufficiency, hypoparathyroidism, chronic mucocutaneous candidiasis, ectodermal dystrophy, and many other potential autoimmune disorders.