Mutations in the AIRE gene cause a rare autoimmune disorder in humans, which is termed autoimmune polyglandular syndrome type I (APS 1) or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and involves chronic mucocutaneous candidiasis as well as dysfunction of the adrenal, parathyroid and other endocrine glands (18, 19). Here, AIRE is linked to autoimmune polyendocrine syndrome type 1.