The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Issue 6 (December 2015)

• Record Type: Journal Article
• Is Part Of: Current opinion in allergy and clinical immunology. Volume 15:Issue 6(2015:Dec.)
• Publication Date: 2015-12
• Subjects: forkhead domain -- forkhead box protein 3 -- immunodysregulation, polyendocrinopathy, enteropathy and X-linked syndrome, Treg cells; Allergy -- Periodicals; Clinical immunology -- Periodicals; Hypersensitivity; Immunity; Immune System Diseases; Allergy and Immunology; 616.079
• DOI: 10.1097/ACI.0000000000000214
• Languages: English
• ISSNs: 1528-4050

Abstract

Abstract : Purpose of review: This article presents a comprehensive review of the immunodysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, covering both the clinical and molecular aspects of the disease. Recent findings: The IPEX syndrome is a rare immunological disorder in humans caused by inheritable mutations in the FOXP3 gene, the master transcriptional regulator for the development and function of CD4 + regulatory T (Treg) cells. Forkhead box protein 3 (FOXP3 + ) Treg cells represent a unique T-cell lineage with inhibitory functions, and are responsible for immune homeostasis and tolerance to self and nonself antigens. Evidence shows that a Treg developmental deficiency or dysfunction underlies the severe, multiorgan, autoimmune disease of IPEX. Summary: An in-depth structural and functional analysis of the molecular domains of FOXP3 is essential for our understanding of the observed clinical heterogeneity and prognosis in IPEX.