Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.S636F
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STAT3

NM_139276.3:p.S636F

Associated Papers

Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.

Xie T et al.

Orphanet Journal of Rare Diseases, 2025

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Salehi M et al.

Health Science Reports, 2025

The treatment efficacy of dupilumab in autosomal dominant hyper-immunoglobulin E syndrome with severe atopic dermatitis.

Li W et al.

Asia Pacific Allergy, 2024

In Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.

Mansouri M et al.

Evolutionary Bioinformatics Online, 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

Low-grade Apocrine Intraductal Carcinoma: Expanding the Morphologic and Molecular Spectrum of an Enigmatic Salivary Gland Tumor.

Bishop JA et al.

Head and Neck Pathology, 2020

Autosomal dominant hyper IgE syndrome from a single centre in Chongqing, China (2009-2018).

Xiang Q et al.

Scandinavian Journal of Immunology, 2020

Dupilumab to treat severe atopic dermatitis in autosomal dominant hyper-IgE syndrome.

Sogkas G et al.

Clinical Immunology (orlando, Fla.), 2020

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 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

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

Bocchini CE et al.

Blood, 2016

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

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

Haenen F et al.

Journal of Pediatric Genetics, 2013

STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

He J et al.

Journal of Biosciences, 2012

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.

Meyer-Bahlburg A et al.

The Journal of Allergy and Clinical Immunology, 2012

Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells.

Saito M et al.

The Journal of Experimental Medicine, 2011

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."