Associated Papers
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
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
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.
Lobo PB 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
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