Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T622I
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STAT3

NM_139276.3:p.T622I

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Aberrant function of pathogenic STAT3 mutant proteins is linked to altered stability of monomers and homodimers.

Kasembeli MM et al.

Blood, 2023

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Tar I et al.

Central-european Journal of Immunology, 2023

Malignancy in STAT3 Deficient Hyper IgE Syndrome.

Urban A et al.

Journal of Clinical Immunology, 2022

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

34137790 (PubMed )
Supplement: JEM_20202592_TableS3.xlsx › Table_S2

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome.

Farmand S et al.

European Journal of Immunology, 2018

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

Transcription of the activating receptor NKG2D in natural killer cells is regulated by STAT3 tyrosine phosphorylation.

Zhu S et al.

Blood, 2014

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

Freeman AF et al.

Journal of Clinical Immunology, 2013

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

Haenen F et al.

Journal of Pediatric Genetics, 2013

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

Chandesris MO et al.

Medicine, 2012

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Woellner C et al.

The Journal of Allergy and Clinical Immunology, 2010

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Wjst M et al.

European Journal of Human Genetics : Ejhg, 2009

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

Paulson ML et al.

Current Opinion in Allergy and Clinical Immunology, 2008

STAT3 mutations in the hyper-IgE syndrome.

Holland SM et al.

The New England Journal of Medicine, 2007

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