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suck abstract from ncbi


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pmid24240290      Curr+Opin+Pediatr 2013 ; 25 (6): 708-14
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  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases #MMPMID24240290
  • Verbsky JW; Chatila TA
  • Curr Opin Pediatr 2013[Dec]; 25 (6): 708-14 PMID24240290show ga
  • Purpose of review: To summarize recent progress in our understanding of Immune Dysregulation, Polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders. Recent findings: A number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory (TR) cell development and function. The best characterized of these is Immune Dysregulation, Polyendocrinopathy, enteropathy, X-linked (IPEX), resulting from mutations affecting FOXP3. A number of other gene defects that affect TR cell function also give rise to IPEX-related phenotypes, including loss of function mutations in CD25 and STAT5b and ITCH. Recent progress includes the identification of gain of function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3 genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. Summary: An expanding spectrum of genetic defects that compromise TR cell function underlies human disorders of immune dysregulation and autoimmunity. Collectively, these disorders offer novel insights into pathways of peripheral tolerance and their disruption in autoimmunity.
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