AIRE and autoimmune disease: Although it is clear that loss-of-function mutations in the human AIRE gene result in a multi-organ autoimmune disease known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1)65,66, direct evidence of TSA expression in human AIRE+ mTECs is lacking.