Document Detail

Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
MedLine Citation:
PMID:  19328411     Owner:  NLM     Status:  MEDLINE    
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.
Noriko Shikama; Gretel Nusspaumer; Georg A Holländer
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
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:
Created Date:  2009-03-30     Completed Date:  2009-06-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8800104     Medline TA:  Endocrinol Metab Clin North Am     Country:  United States    
Other Details:
Languages:  eng     Pagination:  273-88, vii     Citation Subset:  IM    
Laboratory of Pediatric Immunology, Department of Biomedicine, University of Basel and The University Children's Hospital (UKBB), Basel, Switzerland.
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MeSH Terms
Polyendocrinopathies, Autoimmune* / genetics,  immunology,  physiopathology
Thymus Gland / immunology*
Transcription Factors / genetics*,  immunology*
Grant Support
R0I-A1057477-01//PHS HHS
Reg. No./Substance:
0/APECED protein; 0/Transcription Factors

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