中国实用儿科杂志2026，Vol.41Issue(6)：480-483,4.DOI:10.19538/j.ek2026060605
出生免疫缺陷的再认识:从"罕见儿科病"到全生命周期疾病的认识演变
Re-understanding of inborn errors of immunity:from a"rare pediatric disease"to a lifespan disorder
孙金峤1
作者信息
- 1. 复旦大学附属儿科医院,上海 201102
- 折叠
摘要
Abstract
Inborn Errors of Immunity(IEI),also known as primary immunodeficiency diseases(PID),were long regarded as a group of rare congenital disorders primarily affecting infants and young children.However,over the past two decades,increased diagnostic awareness and technological advancements have profoundly transformed their epidemiological landscape.The prevalence has significantly increased,and the range of onset age has greatly expanded,extending from the neonatal period to adulthood and even old age.This review systematically elaborates on this evolutionary process of IEI,with a particular focus on groundbreaking advances in diagnostic technologies such as high-throughput sequencing,as well as the leap in therapeutic strategies from replacement therapies to gene editing.It is proposed that these advancements have not only reshaped our understanding of IEI but have also greatly improved patient outcome,marking the entrance of the field of IEI into a new era of precision medicine.关键词
出生免疫缺陷/诊断/基因治疗Key words
inborn errors of immunity/diagnose/gene therapy分类
医药卫生引用本文复制引用
孙金峤..出生免疫缺陷的再认识:从"罕见儿科病"到全生命周期疾病的认识演变[J].中国实用儿科杂志,2026,41(6):480-483,4.
