Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition, there has been an increasing number of patients with wild-type FOXP3 gene and, in some cases, mutations in other immune regulat...

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Main Authors: Eleonora Gambineri, Sara Ciullini Mannurita, David Hagin, Marina Vignoli, Stephanie Anover-Sombke, Stacey DeBoer, Gesmar R. S. Segundo, Eric J. Allenspach, Claudio Favre, Hans D. Ochs, Troy R. Torgerson
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02411/full