Autoimmune polyglandular syndromes.
Autoimmune polyglandular syndrome type 1 (APS1) is characterized by a variable combination of disease components: (1) mucocutaneous candidiasis; (2) autoimmune tissue destruction; (3) ectodermal dystrophy. The disease is caused by mutations in a single gene called APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy) or AIRE (autoimmune regulator) coding for a putative transcription factor featuring two zinc-finger (PHD-finger) motifs. APS1 shows a penetrance of 100%, lack of female preponderance and lack of association with HLA-DR. Typically, onset of APS1 occurs in childhood and multiple autoimmune manifestations evolve throughout lifetime. Organ-specific autoantibodies associated with hypoparathyroidism, adrenal and gonadal failures, IDDM, hepatitis 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 and/or hyperthyroidism. APS2 is believed to be polygenic, characterized by dominant inheritance and association with HLA DR3.
Obermayer-Straub
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P
Department of Gastroenterology and Hepatology, Hannover Medical School, Germany.
Manns
M P
MP
D000309:Adrenal Insufficiency / Q000209:etiology; D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology; D005260:Female; D006058:Gonadal Disorders / Q000209:etiology; D019693:Hepatitis, Autoimmune / Q000209:etiology; D006801:Humans; D007011:Hypoparathyroidism / Q000209:etiology; D007246:Infertility / Q000209:etiology; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000235:genetics*; D014820:Vitiligo / Q000209:etiology