Department of Molecular Biology and Genetics, Istınye University, Istanbul, Turkey.
Institute of Child Health, Hacettepe University, Ankara, Turkey.
Pediatr Allergy Immunol Pulmonol. 2020 Mar;33(1):19-24. doi: 10.1089/ped.2019.1097. Epub 2020 Feb 25.
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. We applied whole-exome sequencing in 8 PID patients. Detected mutations by NGS were validated by Sanger sequencing. We made a genetic diagnosis in 5 of 8 (63%) patients, including 3 novel disease-causing variants. The identified mutations were found in , , , , and genes. Our results show that whole-exome sequencing can facilitate the genetic diagnosis of the patients with PID.
原发性免疫缺陷病（PID）是一组异质性先天性疾病，其特征为易发生反复感染、过敏、恶性肿瘤和自身免疫。明确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）的方法已实现 PID 的快速基因筛查和新基因缺陷的发现。在本研究中，我们通过 NGS 研究 PID 患者的致病突变。我们对 8 例 PID 患者进行了全外显子组测序。通过 NGS 检测到的突变通过 Sanger 测序进行验证。我们对 8 例患者中的 5 例（63%）进行了遗传诊断，包括 3 种新的致病变异。所鉴定的突变位于 、 、 、 和 基因中。我们的结果表明，全外显子组测序可促进 PID 患者的基因诊断。
