Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
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DOI: 10.3389/fimmu.2018.02411
Abstract: 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,… read more here.
Keywords: enteropathy linked; dysregulation polyendocrinopathy; immune dysregulation; linked ipex ... See more keywords
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China–expanding the atypical phenotypes
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DOI: 10.3389/fimmu.2022.972746
Abstract: Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulatory system caused by forkhead box P3 (FOXP3) mutations. Abnormal numbers or functions of regulatory T (Treg) cells account for… read more here.
Keywords: syndrome china; five patients; immune dysregulation; dysregulation polyendocrinopathy ... See more keywords