AUTOIMMUNE POLYGLANDULAR SYNDROMES

Autoimmune polyglandular syndrome type 1 (APS1) is characterized by a variable combination of disease components: (1) mucocutaneous candidia sis; (2) autoimmune tissue destruction; (3) ectodermal dystrophy. The disease is caused by mutations in a single gene called APECED (autoimm une lyendocrinopathy-candidiasis-ectodermal-dystrophy) or AIRE (autoim mune regulator) coding for a putative transcription factor featuring t wo zinc-finger (PHD-finger) motifs. APS1 shows a penetrance of 100%, l ack of female preponderance and lack of association with HLA-DR. Typic ally, onset of APS1 occurs in childhood and multiple autoimmune manife stations evolve throughout lifetime. Organ-specific autoantibodies ass ociated with hypoparathyroidism, adrenal and gonadal failures, IDDM, h epatitis and vitiligo are discussed, and autoantibody patterns in APS1 patients are compared with autoantibodies in APS type 2 (APS2). APS2 is characterized by adult onset adrenal failure associated with IDDM a nd/or hyperthyroidism. APS2 is believed to be polygenic, characterized by dominant inheritance and association with HLA DR3.