Associated Papers
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
Mackie J et al.
Clinical and Experimental Immunology, 2025
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M et al.
The Journal of Experimental Medicine, 2024
39028869 (PubMed )
Supplement: JEM_20232337_TableS4.xlsx › Table._Supp4
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
39247195 (PubMed )
Supplement: DataSheet1.pdf
The ups and downs of STAT3 function: too much, too little and human immune dysregulation.
Mackie J et al.
Clinical and Experimental Immunology, 2023
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.
Wang W et al.
Bmc Immunology, 2021
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Parlato M et al.
Gastroenterology, 2019
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