Associated Papers
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
Chen R et al.
Journal of Clinical Immunology, 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
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
The potential role for topical imiquimod in the treatment of chronic mucocutaneous candidiasis caused by gain-of-function mutation in STAT1: A case-report.
Reis J et al.
Dermatologic Therapy, 2021
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.
Girardelli M et al.
Pediatric Rheumatology Online Journal, 2021
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.
Rispoli F et al.
Diagnostics (basel, Switzerland), 2021
Systemic Lupus Erythematosus in Children and Young People.
Charras A et al.
Current Rheumatology Reports, 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
Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China.
Chen X et al.
Journal of Clinical Immunology, 2020
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
Tirosh I et al.
Pediatric Rheumatology Online Journal, 2019
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R et al.
The Journal of Biological Chemistry, 2017
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
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations.
Lee PP et al.
The Journal of Allergy and Clinical Immunology, 2014
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP et al.
The Journal of Allergy and Clinical Immunology, 2013
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.
Boisson-Dupuis S et al.
Current Opinion in Immunology, 2012
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L et al.
The Journal of Experimental Medicine, 2011