| pubmed-article:12819471 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0021831 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0342288 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0241764 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0004368 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1416467 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1844666 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1326230 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1704735 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C0205373 | lld:lifeskim |
| pubmed-article:12819471 | lifeskim:mentions | umls-concept:C1511545 | lld:lifeskim |
| pubmed-article:12819471 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:12819471 | pubmed:dateCreated | 2003-6-23 | lld:pubmed |
| pubmed-article:12819471 | pubmed:abstractText | Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX) is one of a group of clinical syndromes that present with multisystem autoimmune disease suggesting a phenotype of immune dysregulation. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema. FOXP3, the gene responsible for IPEX, maps to chromosome Xp11.23-Xq13.3 and encodes a putative DNA-binding protein of the forkhead family. Recent data indicate that FOXP3 is expressed primarily in the CD4+CD25+ regulatory T-cell subset, where it may function as a transcriptional repressor and key modulator of regulatory T-cell fate and function. This review describes the clinical features of IPEX and the structure, function, and known mutations of FOXP3 that provide important insights into its role in maintenance of immune homeostasis. | lld:pubmed |
| pubmed-article:12819471 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12819471 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12819471 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12819471 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12819471 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:12819471 | pubmed:issn | 1040-8711 | lld:pubmed |
| pubmed-article:12819471 | pubmed:author | pubmed-author:OchsHans DHD | lld:pubmed |
| pubmed-article:12819471 | pubmed:author | pubmed-author:TorgersonTroy... | lld:pubmed |
| pubmed-article:12819471 | pubmed:author | pubmed-author:GambineriEleo... | lld:pubmed |
| pubmed-article:12819471 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12819471 | pubmed:volume | 15 | lld:pubmed |
| pubmed-article:12819471 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12819471 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12819471 | pubmed:pagination | 430-5 | lld:pubmed |
| pubmed-article:12819471 | pubmed:dateRevised | 2005-11-17 | lld:pubmed |
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| pubmed-article:12819471 | pubmed:meshHeading | pubmed-meshheading:12819471... | lld:pubmed |
| pubmed-article:12819471 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12819471 | pubmed:articleTitle | Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. | lld:pubmed |
| pubmed-article:12819471 | pubmed:affiliation | Department of Pediatrics, Division of Immunology, Rheumatology and Infectious Diseases, University of Washington, Seattle, Washington, USA, and Department of Pediatrics, A. Meyer Children's Hospital, University of Florence, Florence, Italy. | lld:pubmed |
| pubmed-article:12819471 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12819471 | pubmed:publicationType | Review | lld:pubmed |
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