| Autoimmune polyglandular syndromes. | |
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MedLine Citation:
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PMID: 9890074 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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P Obermayer-Straub; M P Manns |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Baillière's clinical gastroenterology Volume: 12 ISSN: 0950-3528 ISO Abbreviation: Baillieres Clin. Gastroenterol. Publication Date: 1998 Jun |
Date Detail:
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Created Date: 1999-02-02 Completed Date: 1999-02-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8704786 Medline TA: Baillieres Clin Gastroenterol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 293-315 Citation Subset: IM |
Affiliation:
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Department of Gastroenterology and Hepatology, Hannover Medical School, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency
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etiology Adult Diabetes Mellitus, Type 1 / etiology Female Gonadal Disorders / etiology Hepatitis, Autoimmune / etiology Humans Hypoparathyroidism / etiology Infertility / etiology Male Polyendocrinopathies, Autoimmune / complications, genetics* Vitiligo / etiology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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