有过敏性支气管肺性阿斯伯吉洛症 (ABPA) 样表现的CARD9缺乏症:一个病例报告
Mazdak Fallahi1, Seyed Alireza Mahdaviani1, Mohammadreza Shafiei2
1Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Oxford medical case reports
|October 26, 2023
概括
这项研究报告了第一例CARD9缺乏症在伊朗女性身上呈现出过敏性支气管肺性阿斯伯吉洛症 (ABPA) 类症状的病例. 基因分析发现了一种CARD9突变,而用voriconazole治疗导致了临床缓解.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 传染性疾病 传染性疾病
背景情况:
- 卡达胺相关基因9 (CARD9) 缺陷是一种罕见的免疫遗传错误.
- 它使个体易患真菌感染,特别是侵入性阿斯伯吉洛症.
- 过敏性支气管肺性阿斯伯吉洛症 (ABPA) 是一种免疫媒介过敏反应对阿斯伯吉洛菌种.
研究的目的:
- 描述一个患有CARD9缺乏症的患者,表现出类似ABPA的表现.
- 为了确定观察到的免疫缺陷的遗传基础.
- 研究CARD9缺陷相关的阿斯伯吉洛症背后的免疫机制.
主要方法:
- 临床表现和诊断工作,包括成像 (CT,CXR) 和支气管镜检查.
- 侵入性诊断程序:横支气管肺活检 (TBLB) 和组织病理学.
- 遗传分析:全外体测序 (WES) 用于变种识别和桑格测序用于确认.
主要成果:
- 一名14岁的女性出现了模仿ABPA的症状,包括咳,呼吸困难和发烧.
- 组织病理学和成像学证实了类似ABPA的情况.
- 基因检测显示,在CARD9基因中存在一种自体逆向的同卵性突变.
- 沃里康纳治疗导致临床缓解,并继续进行预防.
结论:
- 这是第一个报告的遗传性CARD9缺陷病例,呈现出由Aspergillus terreus引起的ABPA类综合征.
- 这些发现强调了在耐火或非典型的真菌感染中进行遗传调查的重要性.
- 这一案例提供了关于CARD9缺乏和阿斯伯吉洛症之间的免疫相互作用的见解,为进一步研究铺平了道路.
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