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 polyendocrinopat...

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Bibliographic Details
Published in:Baillière's clinical gastroenterology 1998-06, Vol.12 (2), p.293-315
Main Authors: Obermayer-Straub, P, Manns, M P
Format: Article
Language:English
Subjects:
Adrenal Insufficiency - etiology
Adult
Diabetes Mellitus, Type 1 - etiology
Female
Gonadal Disorders - etiology
Hepatitis, Autoimmune - etiology
Humans
Hypoparathyroidism - etiology
Infertility - etiology
Male
Polyendocrinopathies, Autoimmune - complications
Polyendocrinopathies, Autoimmune - genetics
Vitiligo - etiology
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Summary: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.
ISSN:0950-3528
DOI:10.1016/S0950-3528(98)90136-1