Utility of next generation sequencing in clinical primary immunodeficiencies.
Utility of next generation sequencing in clinical primary immunodeficiencies.
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DOI：
10.1007/s11882-014-0468-y
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发表时间：
2014-10
影响因子：
5.5
通讯作者：
Dinwiddie DL
中科院分区：
文献类型：
--
作者：
Raje N;Soden S;Swanson D;Ciaccio CE;Kingsmore SF;Dinwiddie DL
原发性免疫缺陷（PID）是一组遗传异质性疾病，表现出非常相似的症状，使明确诊断变得复杂。迄今为止，超过240个基因与PID相关，其中超过30个基因是在过去3年中鉴定的。信息家族的基因组或外显子组的下一代测序（NGS）在发现新的PID基因中发挥了核心作用。此外，NGS有可能改变已建立PID的临床分子检测，允许一次检测所有PID鉴别诊断，从而提高诊断率，同时减少获得分子诊断的时间和成本。鉴于PID的治疗因疾病基因而异，早期实现分子诊断可能会增强治疗决策并改善患者结局。
Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel PID genes. Furthermore, NGS has the potential to transform clinical molecular testing for established PIDs, allowing all PID differential diagnoses to be tested at once, leading to increased diagnostic yield, while decreasing both the time and cost of obtaining a molecular diagnosis. Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes.