使用下一代测序诊断混合感染和一次性免疫缺陷疾病的诊断:一个病例报告
Xiaolei Zhang1, Yixue Wang1, Daly Pen2
1Department of Pediatric Intensive Care Unit, Children's Hospital of Fudan University, Shanghai, China.
Frontiers in cellular and infection microbiology
|September 7, 2023
概括
大型组织相容性复杂II类 (MHC II) 缺陷是一种罕见的,往往致命的,原发性免疫缺陷障碍. 下一代测序 (NGS) 有助于在重症婴儿中及时诊断和识别病原体,从而实现有效的治疗.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 主要基因相容性复杂II类 (MHC II) 缺陷是一种罕见的原发性免疫缺陷疾病,由于诊断延迟和治疗选择有限,其死亡率很高.
- 早期诊断和有效的干预对于改善MHC II缺乏症患者的治疗结果至关重要.
研究的目的:
- 报告一个诊断为MHC II缺乏症的严重病情的婴儿病例.
- 突出下一代测序 (NGS) 在诊断罕见免疫缺陷和识别致病原体方面的实用性.
主要方法:
- 一个117天大的男孩的临床表现,有严重的呼吸道症状.
- 诊断工作包括血液检测,成像,呼吸样本的下一代代代数测序 (mNGS) 和整个外体序列测序 (WES).
- 积极的呼吸辅助和量身定制的抗菌疗法.
主要成果:
- 该患者出现了严重的肺炎和呼吸衰竭,最初对经验性抗菌药物治疗没有反应.
- NGS在CIITA基因中发现了异构基因突变,证实了MHC II缺陷.
- mNGS成功地在唾液和支气管支气管洗液中发现了传染病原体.
- 患者呈现临床改善,从机械通风中断奶,并在等待干细胞移植时用口服抗菌药物出院.
结论:
- 在快速诊断无法解释的感染和罕见的初级免疫缺陷障碍 (如MHC II缺陷) 中,NGS起着至关重要的作用.
- 将传统检测方法与mNGS相结合,可以提高病原体识别的准确性.
- 及时诊断和治疗,包括支持性护理和潜在的干细胞移植,对于管理MHC II缺陷至关重要.
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