Immune Dysregulation,Polyendocrinopathy, Enteropathy,X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset |
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| Authors: | Gü lay Karagü zel,Recep Polat,Mehtap H. Abul,Alper Han Cebi,Fazı l Orhan |
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| Affiliation: | 1.Karadeniz Technical University Faculty of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey; 2.Karadeniz Technical University Faculty of Medicine, Department Pediatric Allergy and Immunology, Trabzon, Turkey; 3.Karadeniz Technical University Faculty of Medicine, Department of Genetics, Trabzon, Turkey |
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| Abstract: | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease. |
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| Keywords: | Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome neonatal diabetes renal disease |
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