原发性免疫缺陷病分子诊断及新发原发性免疫缺陷病

发布时间：2018-05-12 10:45

本文选题：原发性免疫缺陷病 + 分子诊断　；参考：《中国实用儿科杂志》2017年07期

【摘要】：原发性免疫缺陷病(PID)是免疫系统1个或多个要素缺陷所致的一类罕见病,大多数PID为单基因遗传病。由于遗传的多效性与异质性,明确的分子诊断对PID精准诊治非常重要。Sanger测序和下一代测序(NGS)是PID分子诊断的主要工具。前者是检测单个基因以及验证NGS结果的金标准。NGS越来越多地应用于临床,但对生物信息分析的要求较高。二者各有优势与不足,需合理结合、扬长避短,才能发挥最优作用。PID分子诊断的4步法策略值得借鉴。另外,对NGS的临床应用和PID分子诊断发展的一些建议也值得学习。
[Abstract]:Primary immunodeficiency disease (PID) is a rare disease caused by one or more factor defects in the immune system. Because of the heterogeneity and heterogeneity of heredity, definite molecular diagnosis is very important for accurate diagnosis and treatment of PID. Sanger sequencing and next generation sequencing are the main tools for PID molecular diagnosis. The former is the gold standard for the detection of single gene and the verification of NGS results. The advantages and disadvantages of the two methods need to be reasonably combined and the advantages and disadvantages should be avoided in order to play the best role. The four-step strategy of the molecular diagnosis of pid is worth using for reference. In addition, some suggestions for the clinical application of NGS and the development of PID molecular diagnosis are also worth studying.
【作者单位】：香港大学深圳医院儿科深圳市原发性免疫缺陷病诊治技术工程实验室香港大学儿童与青少年医学系;
【基金】：国家自然科学基金面上项目(81671626) 深圳市未来产业发展专项[深圳市发改委(2015)164]
【分类号】：R725.9

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