Associated Papers
Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.
Molnár E et al.
The Journal of Allergy and Clinical Immunology. Global, 2026
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
STAT1 and herpesviruses: Making lemonade from lemons.
Johansen ER et al.
Virology, 2025
A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.
Martinsen KHB et al.
Frontiers in Immunology, 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
The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.
Torrance R et al.
Frontiers in Immunology, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.
Olbrich P et al.
Current Opinion in Allergy and 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
Memory CD8 T cells are vulnerable to chronic IFN-γ signals but not to CD4 T cell deficiency in MHCII-deficient mice.
Setoguchi R et al.
Nature Communications, 2024
STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
Andou M et al.
Internal Medicine (tokyo, Japan), 2024
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
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
Monogenic inborn errors of immunity in autoimmune disorders.
Venkatachari IV et al.
Immunologic Research, 2023
Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.
Ruan P et al.
Pediatric Blood & Cancer, 2023
Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease.
Toth KA et al.
Journal of Immunology (baltimore, Md. : 1950), 2023
Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
Wang X et al.
Mycopathologia, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q et al.
Science Immunology, 2023
Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.
Oishi N et al.
Blood Advances, 2023
Unusual Talaromyces marneffei and Pneumocystis jirovecii coinfection in a child with a STAT1 mutation: A case report and literature review.
Yang Q et al.
Frontiers in Immunology, 2023
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
Scott O et al.
Frontiers in Immunology, 2023
Human variation in population-wide gene expression data predicts gene perturbation phenotype.
Bonaguro L et al.
Iscience, 2022
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson K et al.
Hgg Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
An inhibitory effect on the nuclear accumulation of phospho-STAT1 by its unphosphorylated form.
Menon PR et al.
Cell Communication and Signaling : Ccs, 2022
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
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T et al.
Frontiers in Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in 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
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N et al.
Journal of Clinical Immunology, 2021
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2021
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Giovannozzi S et al.
Frontiers in Immunology, 2020
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.
Nemoto K et al.
Frontiers in Immunology, 2020
Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.
Al Shehri T et al.
Journal of Clinical Immunology, 2019
A Human STAT1 Gain-of-Function Mutation Impairs CD8+ T Cell Responses against Gammaherpesvirus 68.
Qian W et al.
Journal of Virology, 2019
Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.
Petersen J et al.
Molecular Immunology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019