Associated Papers
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
Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function
Valerio-Gómez V et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
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
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q et al.
Science Immunology, 2023
36763636 (PubMed )
Supplement: NIHMS1878751-supplement-Supplementary_Materials_and_Methods.pdf
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
Oncogenic JAK2V617F causes PD-L1 expression, mediating immune escape in myeloproliferative neoplasms.
Prestipino A et al.
Science Translational Medicine, 2018
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R et al.
The Journal of Allergy and Clinical Immunology, 2017
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