Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.F404Y
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STAT1

NM_007315.4:p.F404Y

Associated Papers

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Lei WT et al.

Journal of Clinical Immunology, 2024

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Asano T et al.

Immunological Reviews, 2024

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S et al.

Journal of Clinical Immunology, 2020

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M et al.

Journal of Clinical Immunology, 2016

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

Yamazaki Y et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

Al Rushood M et al.

The Journal of Pediatrics, 2013

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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."