Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.T288I
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STAT1

NM_007315.4:p.T288I

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.

Wang L et al.

Mycopathologia, 2022

DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.

Scott O et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.

Liu L et al.

Frontiers in Cellular and Infection Microbiology, 2022

Talaromyces Marneffei Infection in an HIV-Negative Child with a CARD9 Mutation in China: A Case Report and Review of the Literature.

You CY et al.

Mycopathologia, 2021

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

Okada S et al.

Journal of Clinical Immunology, 2020

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.

Lee PP et al.

Frontiers in Immunology, 2019

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

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations.

Lee PP et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."