Associated Papers
Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.
Luo M et al.
Mycopathologia, 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
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S et al.
The Journal of Clinical Investigation, 2024
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
The pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile.
Staab J et al.
Molecular Immunology, 2020
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Tabellini G et al.
The Journal of Allergy and Clinical Immunology, 2017
Novel STAT1 gain-of-function mutation and suppurative infections.
Giardino G et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2016
Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.
Dotta L et al.
Clinical Immunology (orlando, Fla.), 2016
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
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.
Higgins E et al.
The Journal of Allergy and Clinical Immunology, 2015
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