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

Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome.

Scandinavian journal of infectious diseases - 1 Mar 2013

Mogensen Trine H, Jakobsen Marianne A, Larsen Carsten S

Abstract excerpt

Here we describe a patient with hyper-IgE syndrome presenting with recurrent staphylococcal abscesses, pneumonia, and chronic mucocutaneous candidiasis, and report the identification of a novel STAT3 mutation at amino acid position 621, which has not previously been described. In addition, we review the immunological, infectious, and genetic features of hyper-IgE syndrome.

Read the complete abstract on PubMed

Topics

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

Share to Abscess
Share to Candidiasis, Chronic Mucocutaneous
Share to STAT3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Job Syndrome

Share to Mutation

Share to Staphylococcal Skin Infections

Share to STAT3 Transcription Factor

Source

Identifiers

PMID: 22992060
DOI: 10.3109/00365548.2012.715750

Genes

STAT3

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

Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome.PMID 22992060Read ↗

A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome.Semantic proximity Read ↗

Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India.Semantic proximity Read ↗

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.Semantic proximity Read ↗

Hyper-IgE syndrome with a novel mutation of the STAT3 gene.Semantic proximity Read ↗

Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses.Semantic proximity Read ↗

An update on the hyper-IgE syndromes.Semantic proximity Read ↗

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

Hyper-IgE Syndromes and the Lung.Semantic proximity Read ↗

[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review].Semantic proximity Read ↗

Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation-Case Report.Semantic proximity Read ↗

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.Semantic proximity Read ↗

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

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