疑似原发性免疫缺陷疾病下一代测序的诊断产量:系统性审查和元分析

Yingying Chen1, Dongrui Li2, Jiawen Yin1

  • 1Department of Dermatology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510260, China.

概括

下一代测序 (NGS) 为原发性免疫缺陷疾病 (PID) 提供了42%的诊断产量. 这种基因检测在有家族病史的患者中更有效,有助于准确的疾病类型诊断以获得更好的治疗.