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
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.
Martinsen KHB et al.
Frontiers in Immunology, 2025
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Lei WT et al.
Journal of Clinical Immunology, 2024
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
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
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
Structure-function analysis indicates that sumoylation modulates DNA-binding activity of STAT1.
Grönholm J et al.
Bmc Biochemistry, 2012
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