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

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.