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Article

From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.

Annals of the New York Academy of Sciences - 1 Apr 2018

Bacchetta Rosa, Barzaghi Federica, Roncarolo Maria-Grazia

Abstract excerpt

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. Numerous papers documenting the key clinical and molecular characteristics of IPEX have provided a detailed understanding of this devastating disease. IPEX is a primary immunodeficiency caused by mutations in the gene FOXP3, which encodes an...

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Identifiers

PMID: 26918796
DOI: 10.1111/nyas.13011

Genes

FOXP3

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From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.PMID 26918796Read ↗

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.Semantic proximity Read ↗

IPEX as a result of mutations in FOXP3.Semantic proximity Read ↗

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Semantic proximity Read ↗

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Semantic proximity Read ↗

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.Semantic proximity Read ↗

FOXP3 deficiency, from the mechanisms of the disease to curative strategies.Semantic proximity Read ↗

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.Semantic proximity Read ↗

Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Semantic proximity Read ↗

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Semantic proximity Read ↗

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.Semantic proximity Read ↗

IPEX and the role of Foxp3 in the development and function of human Tregs.Semantic proximity Read ↗

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.Semantic proximity Read ↗

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