| Autoimmune polyglandular syndromes. | |
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MedLine Citation:
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PMID: 20309000 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The autoimmune polyglandular syndromes-a group of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases-differ in their component diseases and in the immunologic features of their pathogenesis. One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of central tolerance-a process by which developing T cells with potential reactivity for self-antigens are eliminated during early differentiation in the thymus. Patients with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome harbor mutations in the forkhead box P3 (FOXP3) gene in regulatory T cells, which leads to severe autoimmunity and immune deficiency. Although both of these disorders are rare, their well-defined mechanisms of disease provide a basis for the understanding of the more common condition, APS-2. In this syndrome, alleles of human leukocyte antigens (HLAs) determine the targeting of specific tissues by autoreactive T cells, which leads to organ-specific autoimmunity as a result of this loss of tolerance. Non-HLA genes also contribute to autoimmunity in APS-2 and, depending on the polymorphism, potentially predispose to a loss of tolerance or influence which organ is specifically targeted. This Review discusses the genetic basis of APS-1, APS-2 and IPEX syndrome, with an emphasis on the mechanisms of autoimmunity and presents currently available therapies to treat their underlying autoimmune disorders. |
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Authors:
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Aaron W Michels; Peter A Gottlieb |
Publication Detail:
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Type: Journal Article; Review Date: 2010-03-23 |
Journal Detail:
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Title: Nature reviews. Endocrinology Volume: 6 ISSN: 1759-5037 ISO Abbreviation: Nat Rev Endocrinol Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-23 Completed Date: 2010-07-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101500078 Medline TA: Nat Rev Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 270-7 Citation Subset: IM |
Affiliation:
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Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, 1775 Aurora Court, MS B140, PO Box 6511, Aurora, CO 80045, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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HLA-DR Antigens
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genetics Humans Mutation Polyendocrinopathies, Autoimmune / etiology*, genetics, therapy |
| Chemical | |
Reg. No./Substance:
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0/HLA-DR Antigens |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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