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Deprecated: Implicit conversion from float 276.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Curr+Opin+Pediatr 2013 ; 25 (6): 708-14 Nephropedia Template TP
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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.