Associated Papers
Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.
Molnár E et al.
The Journal of Allergy and Clinical Immunology. Global, 2026
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
Monoallelic expression in human immune cells: linking genotype to phenotype.
Hammarström L et al.
Trends in Immunology, 2025
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O et al.
Nature, 2025
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
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS et al.
Clinical and Experimental Immunology, 2023
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
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
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
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis.
Wang X et al.
International Journal of Dermatology, 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
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
Frans G et al.
The Journal of Allergy and Clinical Immunology, 2014
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