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
Rare STAT1 variants in Moroccan tuberculosis patients: insights into host genetic susceptibility.
Zaidi S et al.
Clinical and Experimental Immunology, 2026
Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.
Blanco-Lobo P et al.
Journal of Clinical Immunology, 2025
Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).
Sikhayeva N et al.
Journal of Clinical Medicine, 2025
Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function.
Kamal E et al.
Genes, 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
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF.
Koh JY et al.
Journal of Clinical Immunology, 2024
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
Dotta L et al.
Journal of Clinical Immunology, 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
Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.
Fink FM et al.
Frontiers in Immunology, 2024
Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.
Parackova Z et al.
Journal of Clinical Immunology, 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
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
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.
Wang L et al.
Mycopathologia, 2022
Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1.
Kaviany S et al.
Immunohorizons, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia.
Rosenberg JM et al.
Med (new York, N.y.), 2022
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Scott O et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and 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
Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.
Liu L et al.
Frontiers in Cellular and Infection Microbiology, 2022
Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.
Bloomfield M et al.
Frontiers in Immunology, 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
Talaromyces Marneffei Infection in an HIV-Negative Child with a CARD9 Mutation in China: A Case Report and Review of the Literature.
You CY et al.
Mycopathologia, 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
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Kwon WK et al.
Allergy, Asthma & Immunology Research, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
Zimmerman O et al.
Frontiers in Immunology, 2019
Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.
Lee PP et al.
Frontiers in Immunology, 2019
Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea.
Huh HJ et al.
Yonsei Medical Journal, 2018
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.
Bernasconi AR et al.
Journal of Clinical Immunology, 2018
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
Nikolic A
Lung, 2018
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Tabellini G et al.
The Journal of Allergy and Clinical Immunology, 2017
Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation.
Koo S et al.
United European Gastroenterology Journal, 2017
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
Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
Dadak M et al.
Clinical Immunology (orlando, Fla.), 2017
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.
Breuer O et al.
Respiratory Medicine, 2017
Risk Factors for Disseminated Coccidioidomycosis, United States.
Odio CD et al.
Emerging Infectious Diseases, 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