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在患有复合异合体CARD9突变的患者中感染Phialophora americana感染

Jie Wu¹, Yang Xiang², Fengming Li¹

¹Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No.324 Jingwuweiqi Road, Huaiyin District, Jinan, Shandong Province, 250000, P.R. China.

BMC infectious diseases

|April 27, 2025

概括

一种罕见的Phialophora americana真菌感染在一个患有CARD9缺乏症的患者中成功治疗. 在CARD9基因中发现了新的突变,导致对这种机会性真菌病原体的敏感性增加.

科学领域:

医学真菌学医学真菌学
人类遗传学人类遗传学
免疫学免疫学免疫学

背景情况:

菌感染 (phaeohyphomycosis) 是不常见的,特别是当它是由美国菌 (Phialophora americana) 引起时.
卡斯帕斯招募域含有蛋白9 (CARD9) 缺乏与美国虫感染有关.
患有CARD9缺乏症的患者容易发生深层真菌感染.

研究的目的:

报告一个患有CARD9缺乏症的患者罕见的侵入性Phialophora americana感染病例.
在受影响的患者中确定CARD9缺陷的遗传基础.
描述这种罕见感染的临床表现,治疗和结果.

主要方法:

甲基因组下一代测序 (mNGS) 用于识别引起的真菌病原体.
进行全外体序列测序 (WES) 来检测遗传突变.
分析了临床数据,包括治疗反应和细胞因子水平 (IL-17,IFN-γ).

主要成果:

美国虫被确定为引起深层皮下感染的病原体.
发现该患者在CARD9基因中具有新型化合物异构基因突变.
沃里康纳治疗是有效的,导致症状的成功消失.

结论:

在CARD9中出现的新型化合物异构基突变可能导致CARD9缺陷.
缺少CARD9会增加对美国虫感染的易感性.
用沃里康纳进行的抗真菌治疗是对CARD9缺乏个体的Phialophora americana感染的可行治疗选择.

关键词:

美国虫 (Phialophora americana) 是一种美国虫.卡片9 卡片9 是一个卡片.化合物异合突变是复合的.这种类型的真菌是类真菌.费奥希福米科西斯 (phaeohyphomycosis) 是一种表达体质的疾病.

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