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The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy,... Downloaded from http://journals.lww.com/co-allergy by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/03/2020 REVIEW URRENT The immunological and genetic basis of immune PINION dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome a b Khalid Bin Dhuban and Ciriaco A. Piccirillo 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. Keywords forkhead domain, forkhead box protein 3, immunodysregulation, polyendocrinopathy, enteropathy and X-linked syndrome, Treg cells INTRODUCTION Clinically, IPEX syndrome is a heterogeneous disorder, and may present with a diverse spectrum of Immunodysregulation, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Opinion in Allergy & Clinical Immunology Wolters Kluwer Health

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

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Publisher
Wolters Kluwer Health
ISSN
1528-4050
eISSN
1473-6322
DOI
10.1097/ACI.0000000000000214
Publisher site
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Abstract

Downloaded from http://journals.lww.com/co-allergy by BhDMf5ePHKbH4TTImqenVA5KvPVPZ0P5BEgU+IUTEfzO/GUWifn2IfwcEVVH9SSn on 06/03/2020 REVIEW URRENT The immunological and genetic basis of immune PINION dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome a b Khalid Bin Dhuban and Ciriaco A. Piccirillo 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. Keywords forkhead domain, forkhead box protein 3, immunodysregulation, polyendocrinopathy, enteropathy and X-linked syndrome, Treg cells INTRODUCTION Clinically, IPEX syndrome is a heterogeneous disorder, and may present with a diverse spectrum of Immunodysregulation,

Journal

Current Opinion in Allergy & Clinical Immunology – Wolters Kluwer Health

Published: Dec 1, 2015

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