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Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing
Pediatric Allergy, Immunology, and Pulmonology ( IF 0.9 ) Pub Date : 2020-03-17 , DOI: 10.1089/ped.2019.1097
Baran Erman 1, 2 , Funda Çipe 3
Affiliation  

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital disorders characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of disease-causing genetic defects is critically important for treatment options. In last decade, next-generation sequencing (NGS)-based methods has enabled the rapid genetic screening and the discovery of new genetic defects in PIDs. In this study, we investigated causative mutations in patients with PID by NGS.

中文翻译:

全外显子组测序对原发性免疫缺陷患者的基因筛查

背景:原发性免疫缺陷 (PID) 是一组异质性的先天性疾病,其特征是对反复感染、过敏、恶性肿瘤和自身免疫的易感性。识别致病基因缺陷对于治疗选择至关重要。在过去十年中,基于下一代测序 (NGS) 的方法使快速遗传筛查和发现 PID 中的新遗传缺陷成为可能。在这项研究中,我们通过 NGS 调查了 PID 患者的致病突变。
更新日期:2020-03-17
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