Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.M390I
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STAT1

NM_007315.4:p.M390I

Associated Papers

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.

Fan H et al.

Frontiers in Immunology, 2025

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

Wang L et al.

Mycopathologia, 2022

Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib.

Bazan-Socha S et al.

Central-european Journal of Immunology, 2022

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

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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."