Gof Mutation | List of Frontiers open access articles

Case Report

Published on 20 Dec 2021

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association

in Primary Immunodeficiencies

Martin Martinot
Anne Sophie Korganow
Mathieu Wald
Julie Second
Elodie Birckel
Antoine Mahé
Laurent Souply
Mahsa Mohseni-Zadeh
Laure Droy
Julien Tarabeux

Frontiers in Immunology

doi 10.3389/fimmu.2021.760019

6,609 views
18 citations

Case Report

Published on 29 Sep 2020

Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation

in Primary Immunodeficiencies

Kazuki Nemoto
Toshinori Kawanami
Takayuki Hoshina
Masataka Ishimura
Kei Yamasaki
Satoshi Okada
Hirokazu Kanegane
Kazuhiro Yatera
Koichi Kusuhara

Frontiers in Immunology

doi 10.3389/fimmu.2020.557521

4,486 views
14 citations

Case Report

Published on 24 Sep 2018

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome

in Inflammation

Julie Barsalou
Annaliesse Blincoe
Isabel Fernandez
Dorothée Dal-Soglio
Lorie Marchitto
Silvia Selleri
Elie Haddad
Aissa Benyoucef
Fabien Touzot

Frontiers in Immunology

doi 10.3389/fimmu.2018.02162

6,132 views
36 citations

Case Report

Published on 09 Jul 2025

Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review

in Pediatric Immunology

Peng Zhou
Meifang Zhu
Yuting Pan
Jing Jin
Zhidan Fan
Haiguo Yu

Frontiers in Pediatrics

doi 10.3389/fped.2025.1577746

1,956 views
1 citation

Original Research

Published on 25 Nov 2021

Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein

in Molecular Innate Immunity

Aleksandra Urban
Daria Kowalska
Grzegorz Stasiłojć
Alicja Kuźniewska
Anna Skrobińska
Emilia Arjona
Eugenia Castellote Alonso
María Ángeles Fenollosa Segarra
Ilse Jongerius
Robbert Spaapen

Frontiers in Immunology

doi 10.3389/fimmu.2021.724361

5,015 views
9 citations

Original Research

Published on 15 Sep 2022

Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation

in Microbial Immunology

Xiaodi Lu
Keming Zhang
Weiwei Jiang
Hang Li
Yue Huang
Mingwei Du
Jian Wan
Yanyun Cao
Lin Du
Xiaogang Liu

Frontiers in Immunology

doi 10.3389/fimmu.2022.988766

8,941 views
11 citations

Original Research

Published on 07 Sep 2021

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy

in Inflammation

Peiwei Zhao
Qingjie Meng
Yufeng Huang
Lei Zhang
Sukun Luo
Xiankai Zhang
Li Tan
Aifen Zhou
Hao Xiong
Xuelian He

Frontiers in Immunology

doi 10.3389/fimmu.2021.676386

6,695 views
15 citations

Case Report

Published on 11 Oct 2022

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy

in Pediatric Endocrinology

Bingyan Cao
Meijuan Liu
Yun Zhao
Chunxiu Gong

Frontiers in Pediatrics

doi 10.3389/fped.2022.1001290

3,290 views
6 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

Kuang Chen
Junfeng Tan
Shenxian Qian
Shenghai Wu
Qiong Chen

Frontiers in Immunology

doi 10.3389/fimmu.2021.682350

4,033 views
16 citations

Case Report

Published on 06 Jan 2023

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report

in Genetics of Common and Rare Diseases

Lingling Liu
Yuan Huang
Yi Liao
Sainan Shu

Frontiers in Pediatrics

doi 10.3389/fped.2022.990729

4,175 views
3 citations

Original Research

Published on 14 Sep 2022

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding

in Lipid and Fatty Acid Research

Samantha K. Sarkar
Angela Matyas
Ikhuosho Asikhia
Zhenkun Hu
Mia Golder
Kaitlyn Beehler
Tanja Kosenko
Thomas A. Lagace

Frontiers in Physiology

doi 10.3389/fphys.2022.960272

10,010 views
14 citations

Original Research

Published on 23 May 2022

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease

in Primary Immunodeficiencies

Mengyue Deng
Yue Li
Yulu Li
Xiaolan Mao
Han Ke
Weiling Liang
Xiaoguang Lei
Yu-Lung Lau
Huawei Mao

Frontiers in Immunology

doi 10.3389/fimmu.2022.866638

7,014 views
7 citations

Original Research

Published on 07 Mar 2023

CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells

in T Cell Biology

Etienne Masle-Farquhar
Yogesh Jeelall
Jacqueline White
Julia Bier
Elissa K. Deenick
Robert Brink
Keisuke Horikawa
Christopher Carl Goodnow

Frontiers in Immunology

doi 10.3389/fimmu.2023.1095257

13,286 views
12 citations

Original Research

Published on 21 Dec 2018

Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis

in Primary Immunodeficiencies

Sigifredo Pedraza-Sánchez
Julia I. Méndez-León
Yolanda Gonzalez
María Laura Ventura-Ayala
María Teresa Herrera
Jose Luis Lezana-Fernández
Joseph A. Bellanti
Martha Torres

Frontiers in Immunology

doi 10.3389/fimmu.2018.02956

8,697 views
20 citations

Original Research

Published on 01 Jun 2021

Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner

in Cell Adhesion and Migration

Jinhua Fang
Xiaoxi Sun
Silu Liu
Pu Yang
Jiangguo Lin
Jingjing Feng
Miguel A. Cruz
Jing-fei Dong
Ying Fang
Jianhua Wu

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.642108

4,260 views
12 citations

Original Research

Published on 03 Dec 2020

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

in Pediatric Neurology

Linxia Zhang
Yongxin Wen
Qingping Zhang
Yan Chen
Jiaping Wang
Kaili Shi
Lijun Du
Xinhua Bao

Frontiers in Pediatrics

doi 10.3389/fped.2020.577544

7,669 views
22 citations

Articles

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association

Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome

Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review

Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein

Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy

Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease

CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells

Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis

Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes