常见的白细胞介素23受体R381Q变异纯合性与慢性黏膜皮肤念珠菌病易感性增加相关。
Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.
作者信息
Gerbaux Margaux, Staels Frederik, Willemsen Mathijs, Neumann Julika, Bücken Leoni, Van Meerbeeck Lize, Roosens Willem, Liston Adrian, Humblet-Baron Stéphanie, Schrijvers Rik
机构信息
KU Leuven Department of Microbiology, Immunology and Transplantation, Adaptive Immunology Laboratory, Leuven, Belgium.
KU Leuven Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, Leuven, Belgium.
出版信息
Eur J Immunol. 2025 Jul;55(7):e70002. doi: 10.1002/eji.70002.
Chronic mucocutaneous candidiasis can be caused by an Inborn Error of Immunity, especially those affecting TH-17 / IL-17 responses. Through in-depth immunophenotyping and functional assays, we reveal the association between homozygous carriage of the common p.R381Q IL-23R genetic variant and increased candidiasis susceptibility, relying on disrupted IL-23-mediated IL-17 immunity.
慢性黏膜皮肤念珠菌病可由先天性免疫缺陷引起，尤其是那些影响TH-17 / IL-17反应的缺陷。通过深入的免疫表型分析和功能测定，我们揭示了常见的p.R381Q IL-23R基因变体的纯合携带与念珠菌病易感性增加之间的关联，这依赖于IL-23介导的IL-17免疫功能的破坏。
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