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

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

Journal of clinical immunology - 21 Oct 2025

Yaz Ismail, Oskay Halacli Sevil, Ipsir Canberk, Ulum Baris, Soyak Aytekin Elif, Bildik Hacer Neslihan, Ocak Melike, Avci Hanife, Okur Fatma Visal, Hizarcioglu Gulsen Hayriye, Demir Hulya, Metin Ayse, Ozon Alev, Kuskonmaz Baris, Tezcan Ilhan, Esenboga Saliha, Cagdas Deniz

Abstract excerpt

BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development/function. AIM: We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome. PATIENTS AND METHODS: We present the clinical/immunological/genetic...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Diabetes Mellitus, Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diarrhea

Share to Forkhead Transcription Factors

Share to Genetic Diseases, X-Linked

Share to Immune System Diseases

Share to Immunophenotyping

Share to T-Lymphocytes, Regulatory

Source

Open in PubMed Open full text

Identifiers

PMID: 41117878
DOI: 10.1007/s10875-025-01934-7
PMCID: PMC12540517

Genes

FOXP3
CD4
CD19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.PMID 41117878Read ↗

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

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

Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.Semantic proximity Read ↗

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

Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.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 ↗

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

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?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 ↗

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

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 ↗

Renal-predominant FOXP3-related immune dysregulation with ALPS-like lymphoproliferation: a case reportSemantic proximity Read ↗

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