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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-1-29
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pubmed:abstractText |
Omenn syndrome (OS) is an autosomal-recessive disorder characterized by severe immunodeficiency and T-cell-mediated autoimmunity. The disease is caused by hypomorphic mutations in recombination-activating genes that hamper the process of Variable (V) Diversity (D) Joining (J) recombination, leading to the generation of autoreactive T cells. We have previously shown that in OS the expression of autoimmune regulator, a key factor governing central tolerance, is markedly reduced.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1097-6825
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pubmed:author |
pubmed-author:BadolatoRaffaeleR,
pubmed-author:CassaniBarbaraB,
pubmed-author:FacchettiFabioF,
pubmed-author:GilianiSilviaS,
pubmed-author:ImperatoriLauraL,
pubmed-author:MarrellaVeronicaV,
pubmed-author:MorattoDanieleD,
pubmed-author:NotarangeloLuigi DLD,
pubmed-author:PlebaniAlessandroA,
pubmed-author:PolianiPietro LuigiPL,
pubmed-author:PortaFulvioF,
pubmed-author:SobacchiCristinaC,
pubmed-author:VairoDonatellaD,
pubmed-author:VezzoniPaoloP,
pubmed-author:VillaAnnaA
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pubmed:copyrightInfo |
Copyright 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
125
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
209-16
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pubmed:meshHeading |
pubmed-meshheading:20109747-Autoimmune Diseases,
pubmed-meshheading:20109747-CD4-Positive T-Lymphocytes,
pubmed-meshheading:20109747-Down-Regulation,
pubmed-meshheading:20109747-Forkhead Transcription Factors,
pubmed-meshheading:20109747-Homeodomain Proteins,
pubmed-meshheading:20109747-Humans,
pubmed-meshheading:20109747-Infant, Newborn,
pubmed-meshheading:20109747-Interleukin-2 Receptor alpha Subunit,
pubmed-meshheading:20109747-Lymph Nodes,
pubmed-meshheading:20109747-Severe Combined Immunodeficiency,
pubmed-meshheading:20109747-T-Lymphocytes, Regulatory,
pubmed-meshheading:20109747-Thymus Gland
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pubmed:year |
2010
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pubmed:articleTitle |
Defect of regulatory T cells in patients with Omenn syndrome.
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pubmed:affiliation |
Fondazione Humanitas per la Ricerca, Rozzano (MI), Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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