Associated Papers
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
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
Structural and mutational analysis of member-specific STAT functions.
Erdogan F et al.
Biochimica Et Biophysica Acta. General Subjects, 2022
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
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.
Hartono SP et al.
Journal of Clinical Immunology, 2018
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