| Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1. | |
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MedLine Citation:
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PMID: 19328411 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autoimmune polyendocrine syndrome type-1 clinically manifests as the triad of hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis. Mutations in the gene that encodes the autoimmune regulator protein, AIRE, have been identified as the cause of the autoimmune polyendocrine syndrome type-1. The loss of immunologic tolerance to tissue-restricted antigens consequent to an absence of AIRE expression in the thymus results in the thymic export of autoreactive T cells that initiate autoimmunity. In this article, we discuss the role of AIRE in autoimmune polyendocrine syndrome type-1 and identify issues that still need to be addressed to fully understand the molecular pathophysiology of this complex syndrome. |
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Authors:
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Noriko Shikama; Gretel Nusspaumer; Georg A Holländer |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Endocrinology and metabolism clinics of North America Volume: 38 ISSN: 1558-4410 ISO Abbreviation: Endocrinol. Metab. Clin. North Am. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-03-30 Completed Date: 2009-06-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8800104 Medline TA: Endocrinol Metab Clin North Am Country: United States |
Other Details:
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Languages: eng Pagination: 273-88, vii Citation Subset: IM |
Affiliation:
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Laboratory of Pediatric Immunology, Department of Biomedicine, University of Basel and The University Children's Hospital (UKBB), Basel, Switzerland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Humans Polyendocrinopathies, Autoimmune* / genetics, immunology, physiopathology Thymus Gland / immunology* Transcription Factors / genetics*, immunology* |
| Grant Support | |
ID/Acronym/Agency:
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R0I-A1057477-01//PHS HHS |
| Chemical | |
Reg. No./Substance:
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0/APECED protein; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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