Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.G618D
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STAT3

NM_139276.3:p.G618D

Associated Papers

Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.

Molnár E et al.

The Journal of Allergy and Clinical Immunology. Global, 2026

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.

Sun L et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations.

Sun L et al.

Biorxiv : the Preprint Server for Biology, 2024

Novel STAT3 variant causing infantile-onset autoimmune disease.

Pan M et al.

Frontiers in Medicine, 2023

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

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

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Rae W et al.

Clinical & Translational Immunology, 2017

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

Bocchini CE et al.

Blood, 2016

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

Chandrasekaran P et al.

The Journal of Allergy and Clinical Immunology, 2016

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies.

Gao Y et al.

Plos One, 2016

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

Freeman AF et al.

Journal of Clinical Immunology, 2013

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

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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."