新生儿重症联合免疫缺陷病分子检测的研究进展  

Research progress on molecular detection of severe combined immune deficiency disease in newborns

作　　者：杨金玲 陈大宇 YANG Jinling;CHEN Dayu(Newborn Disease Screening Center,Liuzhou Maternal and Child Health Hospital,Liuzhou,Guangxi 545000,China)

机构地区：[1]柳州市妇幼保健院新生儿疾病筛查中心,广西柳州545000

出　　处：《医药前沿》2023年第6期64-66,共3页Journal of Frontiers of Medicine

摘　　要：重症联合免疫缺陷病(SCID)是首个纳入新生儿疾病筛查的先天性免疫缺陷病。新生儿SCID分子筛查技术的发展为SCID的早期诊断和治疗提供了更加可靠的手段。但是,分子检测技术也面临着安全性、成本效益等挑战。本文对SCID分子检测技术的优势及挑战进行综述,以为我国新生儿SCID检测提供参考。Severe combined immunodeficiency(SCID)is the first congenital immunodeficiency disease to be included in newborn disease screening.The development of molecular screening technology for newborn SCID has provided a more reliable means for early diagnosis and treatment of this condition.However,molecular detection techniques also face challenges such as safety and cost-effectiveness.This paper summarizes the advantages and challenges of SCID molecular detection technology in order to provide reference for Chinese newborn SCID detection.

关 键 词：综述 重症联合免疫缺陷病 T细胞受体切割环 二代测序 

分 类 号：R722.1[医药卫生—儿科]