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
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
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
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Giovannozzi S et al.
Frontiers in Immunology, 2020
Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.
Kiykim A et al.
Journal of Clinical Immunology, 2019
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Vargas-Hernández A et al.
The Journal of Allergy and Clinical Immunology, 2018
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
Leiding JW et al.
The Journal of Allergy and Clinical Immunology, 2018
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E et al.
Frontiers in Immunology, 2018
PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.
Zhang Y et al.
The Journal of Experimental Medicine, 2017
28710273 (PubMed )
Supplement: JEM_20161427_TableS1.pdf
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