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

X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.

Clinical and experimental immunology - 1 Oct 2002

Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, Notarangelo L D, Andolina M

Abstract excerpt

Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX) is a serious disease arising from mutations in FOXP3. This gene codifies for a transcription factor whose dysfunction results in hyperactivation of T cells. It is not clear, however, why an intermediate phenotype is not seen in heterozygous females, who are completely healthy. In order to address this question, we...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 1
Share to Diarrhea
Share to Dosage Compensation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endocrine System Diseases

Share to Forkhead Transcription Factors

Share to Lymphocyte Activation

Share to Lymphocyte Subsets

Share to Lymphoproliferative Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 12296863
DOI: 10.1046/j.1365-2249.2002.01940.x
PMCID: PMC1906506

Genes

FOXP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.PMID 12296863Read ↗

Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.Semantic proximity Read ↗

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.Semantic proximity Read ↗

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.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 ↗

[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].Semantic proximity Read ↗

X-linked tumor suppressors: perplexing inheritance, a unique therapeutic opportunity.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 ↗

Case Report: FOXP3 Mutation in a Patient Presenting With ALPS.Semantic proximity Read ↗

FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.Semantic proximity Read ↗

[Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene].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 ↗

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