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

STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

Journal of biosciences - 1 Jun 2012

He Jianxin, Shi Jie, Xu Ximing, Zhang Wenhua, Wang Yuxin, Chen Xing, Du Yuping, Zhu Ning, Zhang Jing, Wang Qin, Yang Jinbo

Abstract excerpt

Of all the causes identified for the disease hyper-immunoglobulinemia E syndrome (HIES), a homozygous mutation in tyrosine kinase2 (TYK2) and heterozygous mutations in STAT3 are implicated the defects in Jak/STAT signalling pathway in the pathogenesis of HIES. Mutations of STAT3 have been frequently clinically identified in autosomaldominant (AD) HIES patients' cells, and therefore, the genotype of STAT3 has...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line, Tumor
Share to Dimerization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interleukin-6

Share to Job Syndrome

Share to Phosphorylation

Share to src Homology Domains

Share to STAT3 Transcription Factor

Share to Transfection

Source

Identifiers

PMID: 22581330
DOI: 10.1007/s12038-012-9202-x

Genes

STAT3
TYK2

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

STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.PMID 22581330Read ↗

STAT3-confusion-of-function: Beyond the loss and gain dualism.Semantic proximity Read ↗

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.Semantic proximity Read ↗

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.Semantic proximity Read ↗

Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.Semantic proximity Read ↗

The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.Semantic proximity Read ↗

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.Semantic proximity Read ↗

Signal transducer and activator of transcription 3: a year in review.Semantic proximity Read ↗

Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity.Semantic proximity Read ↗

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutationsSemantic proximity Read ↗

The Ying and Yang of STAT3 in Human Disease.Semantic proximity Read ↗

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.Semantic proximity Read ↗

The ups and downs of STAT3 function: too much, too little and human immune dysregulation.Semantic proximity Read ↗

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