Associated Papers
Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation.
Xiao J et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.
Xiang Y et al.
Journal of Clinical Immunology, 2025
Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency.
Staines-Boone AT et al.
Journal of Human Immunity, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel loss-of-function variant in STAT1 causes Mendelian susceptibility to mycobacterial disease.
Lv K et al.
Frontiers in Cellular and Infection Microbiology, 2025
Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.
Refaat M et al.
Pathogens & Immunity, 2025
A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.
Tello HG et al.
Journal of Clinical Immunology, 2024
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Lei WT et al.
Journal of Clinical Immunology, 2024
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
Chen R et al.
Journal of Clinical Immunology, 2024
Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis.
Lim QY et al.
Frontiers in Immunology, 2024
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Staines-Boone AT et al.
Journal of Clinical Immunology, 2023
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.
Errami A et al.
Journal of Clinical Immunology, 2023
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Asano T et al.
Clinical and Experimental Immunology, 2023
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Ono R et al.
Journal of Clinical Immunology, 2023
Mendelian susceptibility to mycobacterial diseases: state of the art.
Noma K et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases, 2022
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Chen X et al.
Journal of Clinical Immunology, 2022
A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.
Ye F et al.
Frontiers in Cellular and Infection Microbiology, 2022
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T et al.
Journal of Immunology (baltimore, Md. : 1950), 2021
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.
Scott O et al.
Npj Genomic Medicine, 2021
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 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.
Martinot M et al.
Frontiers in Immunology, 2021
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
IFN-γ +874T/A polymorphism increases susceptibility to post-traumatic osteomyelitis.
Zhao XQ et al.
International Journal of Immunogenetics, 2020
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma.
Henrickson SE et al.
Frontiers in Pediatrics, 2019
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.
Sampaio EP et al.
The Journal of Allergy and Clinical Immunology, 2018
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R et al.
The Journal of Allergy and Clinical Immunology, 2017
A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.
Ueki M et al.
Clinical Immunology (orlando, Fla.), 2017
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Ma CS et al.
The Journal of Experimental Medicine, 2016
Response to interferons and antibacterial innate immunity in the absence of tyrosine-phosphorylated STAT1.
Majoros A et al.
Embo Reports, 2016
Primary immunodeficiencies associated with eosinophilia.
Navabi B et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.
Mekki N et al.
The Journal of Investigative Dermatology, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Hirata O et al.
Haematologica, 2013
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
Soltész B et al.
Journal of Medical Genetics, 2013
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.
Boisson-Dupuis S et al.
Current Opinion in Immunology, 2012