Sun Jinqiao, Yang Lin, Lu Yulan, Wang Huijun, Peng Xiaomin, Dong Xinran, Cheng Guoqiang, Cao Yun, Wu Bingbing, Wang Xiaochuan, Zhou Wenhao
Department of Clinical Immunology Children's Hospital of Fudan University Shanghai China.
Clinical Genetic Center Children's Hospital of Fudan University Shanghai China.
Clin Transl Immunology. 2020 May 17;9(5):e1138. doi: 10.1002/cti2.1138. eCollection 2020 May.
We aimed to use next-generation sequencing (NGS) for the early diagnosis of primary immunodeficiency diseases (PIDs) and define its effects on medical management for an infant cohort in early life.
A single-centre study was conducted from November 2015 to April 2018. Infants less than 3 months old with infections or abnormal white blood cell counts were enrolled in the study. Gene variants were analysed by NGS, and once a mutation was found in a PID-associated gene, the immune functions associated with this mutation were detected. The diagnosis rate of PIDs in the cohort was the main outcome. The patients received corresponding management and follow-up treatments.
Among 2392 patients who were genetically tested with NGS, 51 infants were diagnosed with PIDs. Seven types of PIDs were detected, and the most common (25/51, 49%) were combined immunodeficiencies with associated or syndromic features. Thirty-five patients (68.6%) were cured or had improved outcomes after being diagnosed with PID. The NGS cost was US$280 per case.
This study not only highlighted the potential of NGS to rapidly deliver molecular diagnoses of PIDs but also indicated that the prevalence of PIDs is underestimated. With broader use, this approach has the potential to alter clinical strategies.
我们旨在利用下一代测序（NGS）技术对原发性免疫缺陷病（PID）进行早期诊断，并确定其对婴儿队列早期医疗管理的影响。
2015年11月至2018年4月开展了一项单中心研究。纳入3个月龄以下有感染或白细胞计数异常的婴儿。通过NGS分析基因变异，一旦在PID相关基因中发现突变，便检测与该突变相关的免疫功能。队列中PID的诊断率是主要观察指标。患者接受相应的管理和后续治疗。
在2392例接受NGS基因检测的患者中，51例婴儿被诊断为PID。检测到7种类型的PID，最常见的（25/51，49%）是伴有相关或综合征特征的联合免疫缺陷。35例患者（68.6%）在被诊断为PID后治愈或病情改善。NGS检测费用为每例280美元。
本研究不仅突出了NGS快速提供PID分子诊断的潜力，还表明PID的患病率被低估。随着该方法的更广泛应用，其有可能改变临床策略。
