Associated Papers
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano T et al.
Immunological Reviews, 2024
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.
Liu L et al.
Frontiers in Pediatrics, 2022
Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.
Giovannozzi S et al.
Frontiers in Immunology, 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
Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.
Ovadia A et al.
Npj Genomic Medicine, 2018
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R et al.
The Journal of Biological Chemistry, 2017
Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.
Pedraza-Sánchez S et al.
Frontiers in Immunology, 2017
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Zerbe CS et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2016
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M et al.
Journal of Clinical Immunology, 2016
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y et al.
Journal of Immunology (baltimore, Md. : 1950), 2014
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP et al.
The Journal of Allergy and Clinical Immunology, 2013