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  • IPEX as a result of mutations in FOXP3
  • van der Vliet HJ; Nieuwenhuis EE
  • Clin Dev Immunol 2007[]; 2007 (): 89017
  • Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells.
  • |*Genetic Diseases, X-Linked[MESH]
  • |*Polyendocrinopathies, Autoimmune/genetics/immunology/pathology[MESH]
  • |Forkhead Transcription Factors/*genetics[MESH]
  • |Humans[MESH]
  • |Mutation[MESH]
  • |T-Lymphocytes, Regulatory/*immunology[MESH]





  • *{{pmid18317533}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=18317533 IPEX as a result of mutations in FOXP3 ]</b> Clin Dev Immunol 2007; 2007() ; 89017 van der Vliet HJ; Nieuwenhuis EE

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    Clin Dev Immunol

    89017 .2007 2007