Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.G617E
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STAT3

NM_139276.3:p.G617E

Associated Papers

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

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

Asano T et al.

The Journal of Experimental Medicine, 2021

On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up.

Kandilarova SM et al.

Case Reports in Immunology, 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

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

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.

Schimke LF et al.

The Journal of Allergy and Clinical Immunology, 2010

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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."