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Article

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

Molecular immunology - 1 Apr 2010

Papanastasiou Anastasios D, Mantagos Stefanos, Papanastasiou Dimitrios A, Zarkadis Ioannis K

Abstract excerpt

The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by a highly elevated serum IgE, recurrent staphylococcal skin abscesses and cyst-forming pneumonia. Non-immunological abnormalities, including a distinctive facial appearance, hyperextensive joints, scoliosis, fracture following minor trauma, and the retention of primary teeth are also observed in many patients. Recently, it was shown...

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Source

Identifiers

PMID: 20149460
DOI: 10.1016/j.molimm.2010.01.010

Genes

STAT3

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome.PMID 20149460Read ↗

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

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

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.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 signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome.Semantic proximity Read ↗

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

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.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 ↗

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 ↗

[Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8].Semantic proximity Read ↗

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