Brief Research Report
Published on 28 Nov 2025
The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1717692
- 1,667 views
7 articles related to "Stat1 Gain Of Function Mutation"
Articles
Case Report
Published on 29 Sep 2020
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2020.557521
- 4,486 views
- 14 citations
Case Report
Published on 28 May 2020
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2020.00967
- 10,864 views
- 16 citations
Case Report
Published on 24 Apr 2019
Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2019.00768
- 4,659 views
- 10 citations
Case Report
Published on 29 Aug 2022
Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2022.928213
- 7,951 views
- 14 citations
Case Report
Published on 05 Aug 2021
Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation
in Mucosal Immunity
Frontiers in Immunology
doi 10.3389/fimmu.2021.682350
- 4,032 views
- 16 citations
Case Report
Published on 17 Mar 2017
A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2017.00055
- 5,062 views
- 13 citations