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OA

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.