Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.F384L
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STAT3

NM_139276.3:p.F384L

Associated Papers

A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome.

Higashigawa T et al.

Journal of Clinical Immunology, 2025

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome.

Fujita D et al.

Frontiers in Immunology, 2025

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

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

Tar I et al.

Central-european Journal of Immunology, 2023

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

Staphylococcus aureus and Hyper-IgE Syndrome.

Park B et al.

International Journal of Molecular Sciences, 2020

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS et al.

Frontiers in Pediatrics, 2019

Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

de Silva R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

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

Bocchini CE et al.

Blood, 2016

A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient.

Chandesris MO et al.

The Journal of Allergy and Clinical Immunology, 2015

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

Novel mutation in the STAT3 gene in a Chinese boy with hyper-immunoglobulin E syndrome.

Lu Q et al.

The Journal of Dermatology, 2014

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Wolach O et al.

Journal of Clinical Immunology, 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

Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency.

Mazerolles F et al.

The Journal of Allergy and Clinical Immunology, 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

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

Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.

Chandesris MO et al.

Circulation. Cardiovascular Genetics, 2012

Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome.

Garty BZ et al.

European Journal of Pediatrics, 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

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.

Renner ED et al.

The Journal of Allergy and Clinical Immunology, 2008

STAT3 mutations in the hyper-IgE syndrome.

Holland SM et al.

The New England Journal of Medicine, 2007

Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.

Dick JK et al.

Pediatric Dermatology, 0

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