Mutations in AIRE cause a rare autosomal-recessive disorder, autoimmune polyendocrine syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, with the cardinal features being autoimmune hypoparathyroidism, Addison's disease and chronic mucocutaneous candidiasis. This evidence concerns the gene AIRE and autoimmune polyendocrine syndrome type 1.