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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.

DOI:10.1002/eji.70002
PMID:40685773
Abstract

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.

摘要

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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Eur J Immunol. 2025 Jul;55(7):e70002. doi: 10.1002/eji.70002.
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本文引用的文献

1
The Th17/IL-17 Axis and Host Defense Against Fungal Infections.辅助 T 细胞 17 细胞/白细胞介素 17 轴与宿主防御真菌感染。
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1624-1634. doi: 10.1016/j.jaip.2023.04.015. Epub 2023 Apr 26.
2
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.人白细胞介素 23 对于依赖 IFN-γ 的分枝杆菌免疫至关重要。
Sci Immunol. 2023 Feb 17;8(80):eabq5204. doi: 10.1126/sciimmunol.abq5204. Epub 2023 Feb 10.
3
From rare disorders of immunity to common determinants of infection: Following the mechanistic thread.
从罕见的免疫紊乱到常见的感染决定因素：追寻机制线索。
Cell. 2022 Aug 18;185(17):3086-3103. doi: 10.1016/j.cell.2022.07.004.
4
Human inborn errors of immunity underlying superficial or invasive candidiasis.导致浅表或侵袭性念珠菌病的人类先天性免疫缺陷。
Hum Genet. 2020 Jun;139(6-7):1011-1022. doi: 10.1007/s00439-020-02141-7. Epub 2020 Mar 2.
5
The antifungal pipeline: a reality check.抗真菌药物研发进展：现实审视。
Nat Rev Drug Discov. 2017 Sep;16(9):603-616. doi: 10.1038/nrd.2017.46. Epub 2017 May 12.
6
IL-23R mutation is associated with ulcerative colitis: A systemic review and meta-analysis.白细胞介素-23受体突变与溃疡性结肠炎相关：一项系统评价和荟萃分析。
Oncotarget. 2017 Jan 17;8(3):4849-4863. doi: 10.18632/oncotarget.13607.
7
IL23R(Arg381Gln) functional polymorphism is associated with active pulmonary tuberculosis severity.白细胞介素23受体（IL23R）（精氨酸381谷氨酰胺）功能多态性与活动性肺结核严重程度相关。
Clin Vaccine Immunol. 2012 Aug;19(8):1188-92. doi: 10.1128/CVI.00135-12. Epub 2012 Jun 13.
8
Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses.炎症性疾病保护性 R381Q IL23 受体多态性导致原发性 CD4+和 CD8+人 T 细胞功能反应降低。
Proc Natl Acad Sci U S A. 2011 Jun 7;108(23):9560-5. doi: 10.1073/pnas.1017854108. Epub 2011 May 23.
9
The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans.IL23R R381Q 基因变异通过损害人类 IL-23 诱导的 Th17 效应器反应来预防免疫介导的疾病。
PLoS One. 2011 Feb 22;6(2):e17160. doi: 10.1371/journal.pone.0017160.
10
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.一项大规模基因关联研究证实了白细胞介素12B（IL12B），并导致将白细胞介素23受体（IL23R）鉴定为银屑病风险基因。
Am J Hum Genet. 2007 Feb;80(2):273-90. doi: 10.1086/511051. Epub 2006 Dec 21.