Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies
Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies
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DOI：
10.1016/j.jaip.2018.12.022
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发表时间：
2019-03-01
影响因子：
9.4
通讯作者：
Heimall, Jennifer
中科院分区：
文献类型：
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作者：
Heimall, Jennifer
20世纪初染色体、基因和DNA的发现为研究这些元素在疾病发病机制中的作用的技术发展铺平了道路。自21世纪初以来，基因测试，特别是下一代测序，使得广泛的原发免疫缺陷患者的基因疾病关联的速度很快。与此同时，针对特定分子途径的生物和小分子疗法已经开发出来，并正在临床和研究环境中应用，以治疗遗传定义的免疫缺陷。近年来，美国过敏性哮喘和免疫学学会和临床免疫学会都建议使用基因检测来诊断、治疗指导和遗传咨询有原发免疫缺陷临床症状的患者。(C)2019年，由Elsevier Inc.代表美国过敏、哮喘和免疫学学会出版
The discovery of chromosomes, genes, and DNA in the early 20th century paved the way for the development of techniques to examine the role of these elements in disease pathogenesis. Since the start of the 21st century, genetic testing and particularly next-generation sequencing has allowed for a rapid rate of gene disease associations for a broad range of primary immunodeficiency patients. At the same time, biologic and small molecule-based therapies targeting specific molecular pathways have been developed and are being applied clinically and in research settings to treat genetically defined immunodeficiencies. In recent years, both the American Academy of Allergy Asthma and Immunology and the Clinical Immunology Society have recommended the use of genetic testing for diagnosis, therapy guidance, and genetic counseling in patients with clinical symptoms of primary immunodeficiency. (C) 2019 Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology