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Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Clinical & Translational Immunology ( IF 4.6 ) Pub Date : 2020-05-17 , DOI: 10.1002/cti2.1138 Jinqiao Sun 1 , Lin Yang 2 , Yulan Lu 3, 4 , Huijun Wang 4 , Xiaomin Peng 4 , Xinran Dong 4 , Guoqiang Cheng 5 , Yun Cao 5 , Bingbing Wu 4 , Xiaochuan Wang 1 , Wenhao Zhou 5
Clinical & Translational Immunology ( IF 4.6 ) Pub Date : 2020-05-17 , DOI: 10.1002/cti2.1138 Jinqiao Sun 1 , Lin Yang 2 , Yulan Lu 3, 4 , Huijun Wang 4 , Xiaomin Peng 4 , Xinran Dong 4 , Guoqiang Cheng 5 , Yun Cao 5 , Bingbing Wu 4 , Xiaochuan Wang 1 , Wenhao Zhou 5
Affiliation
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Objective
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.
Methods
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.
Results
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.
Conclusions
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.
中文翻译：
在生命早期通过新一代测序筛查原发性免疫缺陷疾病。
目的 我们旨在使用二代测序 (NGS) 对原发性免疫缺陷病 (PIDs) 进行早期诊断，并确定其对婴儿早期医疗管理的影响。方法 2015 年 11 月至 2018 年 4 月开展了一项单中心研究，纳入 3 个月以下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，就会检测到与该突变相关的免疫功能。队列中 PID 的诊断率是主要结果。患者接受了相应的管理和随访治疗。结果 2392 例 NGS 基因检测患者中，51 例婴儿被诊断为 PIDs。检测到七种类型的 PID，最常见的（25/51，49%）是具有相关或综合征特征的联合免疫缺陷。35 名患者（68.6%）在被诊断为 PID 后治愈或预后有所改善。NGS 费用为每箱 280 美元。结论 本研究不仅强调了 NGS 在快速提供 PID 分子诊断方面的潜力，而且表明 PID 的患病率被低估了。随着更广泛的应用，这种方法有可能改变临床策略。
更新日期：2020-05-17
中文翻译：
在生命早期通过新一代测序筛查原发性免疫缺陷疾病。
目的 我们旨在使用二代测序 (NGS) 对原发性免疫缺陷病 (PIDs) 进行早期诊断，并确定其对婴儿早期医疗管理的影响。方法 2015 年 11 月至 2018 年 4 月开展了一项单中心研究，纳入 3 个月以下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，就会检测到与该突变相关的免疫功能。队列中 PID 的诊断率是主要结果。患者接受了相应的管理和随访治疗。结果 2392 例 NGS 基因检测患者中，51 例婴儿被诊断为 PIDs。检测到七种类型的 PID，最常见的（25/51，49%）是具有相关或综合征特征的联合免疫缺陷。35 名患者（68.6%）在被诊断为 PID 后治愈或预后有所改善。NGS 费用为每箱 280 美元。结论 本研究不仅强调了 NGS 在快速提供 PID 分子诊断方面的潜力，而且表明 PID 的患病率被低估了。随着更广泛的应用，这种方法有可能改变临床策略。
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