Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.S668F
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STAT3

NM_139276.3:p.S668F

Associated Papers

Pulmonary manifestations in hyper IgE syndrome: A case series and review of Indian literature.

Narahari NK et al.

Lung India : Official Organ of Indian Chest Society, 2024

Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.

Abbara S et al.

Journal of Clinical Immunology, 2023

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

Asano T et al.

The Journal of Experimental Medicine, 2021

Cutaneous fusariosis caused by Fusarium lichenicola in a child with hyper-immunoglobulin E syndrome.

Shi M et al.

The Journal of Dermatology, 2020

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

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

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

Zhu S et al.

Blood, 2014

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

Haenen F et al.

Journal of Pediatric Genetics, 2013

New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome.

Conti HR et al.

Mucosal Immunology, 2011

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

Woellner C et al.

The Journal of Allergy and Clinical Immunology, 2010

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.

Al Khatib S et al.

The Journal of Allergy and Clinical Immunology, 2009

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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."