Associated Papers
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
41136770 (PubMed )
Supplement: 44321_2025_317_MOESM3_ESM.xlsx › Sheet1
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
41438753 (PubMed )
Supplement: Table1.pdf
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
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A et al.
Journal of Clinical Immunology, 2022
35486339 (PubMed )
Supplement: 10875_2022_1257_MOESM1_ESM.docx
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
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