Melinda Erdős Eszter Jakobicz Beáta Soltész Beáta Tóth Zsuzsanna Bata-Csörgő László Maródi
10.3389/fimmu.2020.00967
Front Immunol
2020 May 28;11:967.
il-17-mediated immunity stat1 gain-of-function mutation mucocutaneous candidiasis mucosal ulcers
CC BY
https://pubmed.ncbi.nlm.nih.gov/32547544/
Candidiasis, Chronic Mucocutaneous / genetics Gain of Function Mutation STAT1 Transcription Factor / genetics Stomatitis, Aphthous / genetics Ulcer / genetics
Candidiasis, Chronic Mucocutaneous / genetics Gain of Function Mutation STAT1 Transcription Factor / genetics Stomatitis, Aphthous / genetics Ulcer / genetics Case Reports Research Support, Non-U.S. Gov't Adult CD4-Positive T-Lymphocytes / immunology CD4-Positive T-Lymphocytes / metabolism Candidiasis, Chronic Mucocutaneous / diagnosis Candidiasis, Chronic Mucocutaneous / immunology Candidiasis, Chronic Mucocutaneous / metabolism Cell Differentiation Cells, Cultured Child, Preschool Female Genetic Predisposition to Disease Heredity Humans Interleukin-17 / metabolism Interleukins / metabolism Nuclear Family Phenotype Phosphorylation Recurrence STAT1 Transcription Factor / metabolism Severity of Illness Index Stomatitis, Aphthous / diagnosis Stomatitis, Aphthous / immunology Stomatitis, Aphthous / metabolism Ulcer / diagnosis Ulcer / immunology Ulcer / metabolism IL17A protein, human Interleukin-17 Interleukins STAT1 Transcription Factor STAT1 protein, human interleukin-22
PMC7270203
32547544
Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation
2020