侵袭性真菌感染患者的CARD9突变
Gizem Guner Ozenen1, Enise Avci Durmusalioglu2, Durdugul Ayyildiz Emecen2
1Division of Infectious Diseases, Department of Pediatrics, Medical School of Ege University, Izmir, Turkey.
Mycopathologia
|December 18, 2025
概括
基因分析显示,有6.6%的土耳其儿童患有侵入性真菌感染的CARD9突变. 这项研究突出了与CARD9突变相关的Pseudallescheria boydii感染的新型儿科病例.
科学领域:
- 免疫学 免疫学 免疫学
- 医学遗传学 医学遗传学
背景情况:
- 卡斯帕酶招募域9 (CARD9) 突变与对入侵性真菌感染的易感性增加有关,特别是Candida物种.
- 了解CARD9的作用对于管理这些感染至关重要.
研究的目的:
- 调查土耳其人,特别是儿童患有侵入性真菌感染的CARD9基因突变谱.
- 鉴定土耳其儿科人口对真菌感染的遗传倾向.
主要方法:
- 对CARD9基因所有12个表子和表子-内突结的测序分析.
- 包括30名在2020-2023年期间被诊断患有侵入性真菌感染或慢性粘膜皮肤候群病的患者.
- 收集和分析人口统计和临床数据.
主要成果:
- 在30名患者中有2名 (6.6%) 发现了引起疾病的CARD9突变.
- 诊断包括真菌内心炎,慢性粘膜皮质候群病,中枢神经系统感染和候群病.
- 一名患有Pseudallescheria boydii脑的患者发现了CARD9突变.
结论:
- 在土耳其,6.6%的患有侵入性真菌感染的儿科患者中发现了CARD9突变.
- 这项研究报告了与CARD9突变相关的Pseudallescheria boydii感染的第一个儿科病例.
- 对CARD9突变的基因查可能有助于诊断和管理侵入性真菌感染.
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