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
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Asano T et al.
Clinical and Experimental Immunology, 2023
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
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W 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
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
Sharfe N et al.
The Journal of Allergy and Clinical Immunology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Hirata O et al.
Haematologica, 2013
A novel STAT1 mutation associated with disseminated mycobacterial disease.
Sampaio EP et al.
Journal of Clinical Immunology, 2012
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
Functional STAT3 deficiency compromises the generation of human T follicular helper cells.
Ma CS et al.
Blood, 2012
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L et al.
The Journal of Experimental Medicine, 2011
Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.
Qu HQ et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2011
Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.
Kristensen IA et al.
Journal of Clinical Immunology, 2011
A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Kong XF et al.
Blood, 2010
A partial form of recessive STAT1 deficiency in humans.
Chapgier A et al.
The Journal of Clinical Investigation, 2009