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Article

Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2015

Sheikine Yuri, Woda Craig B, Lee Pui Y, Chatila Talal A, Keles Sevgi, Charbonnier Louis-Marie, Schmidt Birgitta, Rosen Seymour, Rodig Nancy M

Abstract excerpt

BACKGROUND: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder is an autoimmune disease caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. These mutations affect the normal function of circulating regulatory T cells. IPEX is characterized by profound immune dysregulation leading to dermatitis, enteropathy, multiple...

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Identifiers

PMID: 25911531
DOI: 10.1007/s00467-015-3102-x

Genes

FOXP3

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