Article
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Duztas Demet Teker, Al-Shadfan Lina, Ozturk Hakan, Yazan Hakan, Cakir Erkan, Ekinci Nurcan Unver Ozgur, Dalgic Buket, Rohlfs Meino, Jeske Tim, Klein Christoph, Kotlarz Daniel, Gurkan Odul Egritas
Abstract excerpt
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3). IPEX patients frequently show chronic diarrhea (enteropathy) associated with villous atrophies in the small intestine. Our case is different from this classical information in the literature, since he presented with neonatal onset...
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