Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Current opinion in pediatrics - 1 Dec 2013

Verbsky James W, Chatila Talal A

Abstract excerpt

PURPOSE OF REVIEW: To summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders. RECENT FINDINGS: A number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory cell, development and function. The best characterized of these is IPEX, resulting from mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Diseases, X-Linked
Share to Immune System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Interleukin-2 Receptor alpha Subunit

Share to Intestinal Diseases

Share to Polyendocrinopathies, Autoimmune

Share to STAT5 Transcription Factor

Share to T-Lymphocytes, Regulatory

Source

Open in PubMed Open full text

Identifiers

PMID: 24240290
DOI: 10.1097/MOP.0000000000000029
PMCID: PMC4047515

Genes

FOXP3
ITCH
STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.PMID 24240290Read ↗

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 ↗

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

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

From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.Semantic proximity Read ↗

Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.Semantic proximity Read ↗

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

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: A Multicenter AnalysisSemantic proximity Read ↗

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome.Semantic proximity Read ↗

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

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.Semantic proximity Read ↗

Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.