Document Detail

From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome.
MedLine Citation:
PMID:  19912978     Owner:  NLM     Status:  MEDLINE    
The term autoimmune enteropathy (AIE) was applied to a form of "intractable diarrhoea" with serum gut autoantibodies, characterized by male predominance, early onset, poor response to parenteral nutrition and several autoimmune diseases, mainly type 1 diabetes. In recent years the vague concept of AIE has became more precise thanks to the discovery of its genetic and molecular basis. The FOXP3 molecule is crucial for the generation and maturation of regulatory T cells (Treg) expressing CD4+ and CD25+ molecules. Mutations of the FOXP3 gene, located in X chromosome, produce a syndrome with Immune dysfunction, Polyendocrinopathy, Enteropathy and X-linked inheritance (IPEX). The majority of the ancient so-called AIE cases probably correspond to the new IPEX syndrome, even in female patients who may have some autosomal genetic variants. Besides FOXP3, other molecules are likely to be involved in the generation and function of Treg and its deficiency may also enhance autoimmune disease and IPEX-like syndromes. Meanwhile, the important pathogenic role previously ascribed to gut autoantibodies has vanished, with it remaining as having only certain screening usefulness.
A Blanco Quir??s; E Arranz Sanz; D Bernardo Ordiz; J A Garrote Adrados
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Publication Detail:
Type:  Journal Article; Review     Date:  2009-08-26
Journal Detail:
Title:  Allergologia et immunopathologia     Volume:  37     ISSN:  0301-0546     ISO Abbreviation:  Allergol Immunopathol (Madr)     Publication Date:    2009 Jul-Aug
Date Detail:
Created Date:  2009-11-16     Completed Date:  2010-01-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370073     Medline TA:  Allergol Immunopathol (Madr)     Country:  Spain    
Other Details:
Languages:  eng     Pagination:  208-15     Citation Subset:  IM    
Department of Pediatrics and Immunology, IBGM, University of Valladolid, Spain.
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MeSH Terms
Autoantibodies / blood
Autoimmune Diseases / diagnosis*,  immunology,  therapy
CD8-Positive T-Lymphocytes / immunology,  metabolism
Forkhead Transcription Factors / immunology,  metabolism
Genetic Diseases, X-Linked / diagnosis*,  immunology
Intestinal Diseases / diagnosis*,  immunology,  therapy
Polyendocrinopathies, Autoimmune / diagnosis*,  immunology,  therapy
T-Lymphocytes, Regulatory / immunology,  metabolism
Reg. No./Substance:
0/Autoantibodies; 0/FOXP3 protein, human; 0/Forkhead Transcription Factors

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