Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.V637M
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IL6ST

NM_002184.4:p.V637M

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

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Carrabba M et al.

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

Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses.

Danion F et al.

Frontiers in Immunology, 2020

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Chandesris MO et al.

Medicine, 2012

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

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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."