Associated Papers
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
Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
Wang X et al.
Mycopathologia, 2023
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
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.
Scott O et al.
Npj Genomic Medicine, 2021
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
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.
Bernasconi AR et al.
Journal of Clinical Immunology, 2018
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
Nuclear RNF2 inhibits interferon function by promoting K33-linked STAT1 disassociation from DNA.
Liu S et al.
Nature Immunology, 2018
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis.
Wang X et al.
International Journal of Dermatology, 2017
Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.
Pedraza-Sánchez S et al.
Frontiers in Immunology, 2017
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Ma CS et al.
The Journal of Experimental Medicine, 2016
27401342 (PubMed )
Supplement: supp_jem.20151467_JEM_20151467_sm.pdf
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M et al.
Journal of Clinical Immunology, 2016
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y et al.
Journal of Immunology (baltimore, Md. : 1950), 2014
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
Mizoguchi Y et al.
Journal of Leukocyte Biology, 2014
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