Article
Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
The British journal of dermatology - 1 Mar 2009
Halabi-Tawil M, Ruemmele F M, Fraitag S, Rieux-Laucat F, Neven B, Brousse N, De Prost Y, Fischer A, Goulet O, Bodemer C
Abstract excerpt
BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder characterized by neonatal autoimmune enteropathy, diabetes and thyroiditis, food allergies and skin rash. IPEX syndrome is caused by mutations in FOXP3, a master control gene of regulatory T cells (Tregs), resulting in absent or dysfunctional Tregs. Data in the literature are scarce and the cutaneous...
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