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CYBB的体质马赛克主义导致非典型的CGD与炎症症状
Zhijuan Kang1,2,3, Xinying Qiu1,4, Yixing Ma1,2,3
1The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410007, Hunan, China.
一个罕见的遗传免疫疾病,慢性粒状病 (CGD) 在一个9岁的男孩中被鉴定出,原因是马赛克CYBB基因突变. 这种非典型的形式呈现出炎症症状,而不是严重的感染.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 慢性花瘤性疾病 (CGD) 是一种罕见的先天性免疫错误 (IEI),其特征是缺陷的细胞NADPH氧化酶功能.
- 这种缺陷会损害呼吸道爆发,导致重复的严重感染.
- 链接X的衰退形式 (XL-CGD) 是由CYBB基因突变引起的,通常在儿童早期被诊断出来.
研究的目的:
- 报告一种非典型的CGD病例,在儿童期晚些时候出现炎症症状.
- 通过使用全外因组测序来研究这种非典型呈现的遗传基础.
- 描述已识别的CYBB基因变异及其对活性氧物种生产的影响.
主要方法:
- 临床病例介绍和详细的病史.
- 整体外体序列 (WES) 用于遗传变异检测.
- 在外围白细胞中对变异性基因频率的分析.
- 对反应性氧物种 (ROS) 生产的评估.
主要成果:
- 一个9岁的男孩出现了口腔,皮肤病变和脑膜炎,而不是典型的严重感染.
- 在CYBB基因中,WES发现了一种马赛克致病无意义变异 (p.Arg157X).
- 该变体存在于~60%的外围白细胞中,导致缺陷的ROS产生,但临床表现较温和.
结论:
- 在CYBB基因中的体质马赛克主义可以导致一种非典型的CGD形式,主要有炎症症状.
- 这一案例凸显了在诊断异常呈现的IEI时考虑马赛克主义的重要性.
- 晚期或非典型的CGD表现可能与特定的马赛克变异模式有关.
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