Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T389I
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STAT3

NM_139276.3:p.T389I

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

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Shamriz O et al.

Frontiers in 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

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

Bocchini CE et al.

Blood, 2016

Idiopathic pancreatitis in a patient with a STAT3 mutation.

Michaud C et al.

Allergy & Rhinology (providence, R.i.), 2016

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

Haenen F et al.

Journal of Pediatric Genetics, 2013

A unique case of peroneus brevis/longus myositis in a patient with a STAT3 mutation.

Sterbank J et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013

Molecular dynamics studies of the STAT3 homodimer:DNA complex: relationships between STAT3 mutations and protein-DNA recognition.

Husby J et al.

Journal of Chemical Information and Modeling, 2012

Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease.

Crosby K et al.

Allergy & Rhinology (providence, R.i.), 2012

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

Woellner C et al.

The Journal of Allergy and Clinical Immunology, 2010

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

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

Minegishi Y et al.

Nature, 2007

Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report.

Zhang W et al.

Therapeutic Advances in Respiratory Disease, 0

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