PDF(Pubmed)
Abstract：
To determine the diagnostic yield of Next-generation sequencing (NGS) in suspect Primary Immunodeficiencies Diseases (PIDs). This systematic review was conducted following PRISMA criteria. Searching Pubmed and Web of Science databases, the following keywords were used in the search: (\"Next-generation sequencing\") OR \"whole exome sequencing\" OR \"whole genome sequencing\") AND (\"primary immunodeficiency disease\" OR \"PIDs\"). We used STARD items to assess the risk of bias in the included studies. The meta-analysis included 29 studies with 5847 patients, revealing a pooled positive detection rate of 42% (95% CI 0.29-0.54, P < 0.001) for NGS in suspected PID cases. Subgroup analyses based on family history demonstrated a higher detection rate of 58% (95% CI 0.43-0.71) in patients with a family history compared to 33% (95% CI 0.21-0.46) in those without (P < 0.001). Stratification by disease types showed varied detection rates, with Severe Combined Immunodeficiency leading at 58% (P < 0.001). Among 253 PID-related genes, RAG1, ATM, BTK, and others constituted major contributors, with 34 genes not included in the 2022 IUIS gene list. The application of NGS in suspected PID patients can provide significant diagnostic results, especially in patients with a family history. Meanwhile, NGS performs excellently in accurately diagnosing disease types, and early identification of disease types can benefit patients in treatment.
摘要：
确定下一代测序（NGS）在可疑原发性免疫缺陷疾病（PID）中的诊断产量。本系统评价是按照PRISMA标准进行的。搜索Pubmed和WebofScience数据库，搜索中使用了以下关键词:(\"下一代测序\")或\"全外显子组测序\"或\"全基因组测序\")和(\"原发性免疫缺陷病\"或\"PID\").我们使用STARD项目来评估纳入研究中的偏倚风险。荟萃分析包括29项研究，共5847例患者，在可疑的PID病例中，NGS的合并阳性检出率为42％（95％CI0.29-0.54，P<0.001）。基于家族史的亚组分析显示，有家族史患者的检出率为58%（95%CI0.43-0.71），无家族史患者的检出率为33%（95%CI0.21-0.46）（P<0.001）。按疾病类型分层显示出不同的检出率，严重联合免疫缺陷发生率为58%(P<0.001)。在253个PID相关基因中，RAG1,ATM,BTK,其他人构成了主要贡献者，有34个基因未列入2022年IUIS基因列表。NGS在疑似PID患者中的应用可以提供显著的诊断结果，尤其是有家族史的患者。同时,NGS在准确诊断疾病类型方面表现出色，早期识别疾病类型可以使患者在治疗中受益。
