中国实用儿科杂志

中国实用儿科杂志 ›› 2026, Vol. 41 ›› Issue (6): 480-483.DOI: 10.19538/j.ek2026060605

• 专题笔谈 • 上一篇    下一篇

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

  

  1. 复旦大学附属儿科医院，上海  201102
  • 出版日期:2026-06-06 发布日期:2026-09-14
  • 通讯作者: 电子信箱：jinqiaosun@sina.com

Re-understanding of inborn errors of immunity：from a“rare pediatric disease”to a lifespan disorder

  1. Fudan University Children’s Hospital，Shanghai  201102，China
  • Online:2026-06-06 Published:2026-09-14

摘要： 出生免疫缺陷（inborn errors of immunity，IEI），又称原发性免疫缺陷病（primary immunodeficiency diseases，PID），曾长期被视为一组罕见的、主要累及婴幼儿的先天性疾病。然而，近20年来，随着诊断意识的提高和技术更新，其流行病学谱发生了深刻变革，患病率显著升高，起病年龄谱极大拓宽，从新生儿期延伸至成年甚至老年。文章阐述 IEI 的这一演变历程，并聚焦于高通量测序等诊断技术的突破性进展，以及从替代治疗到基因编辑等治疗策略的飞跃，提出这些进步不仅重塑了对 IEI 的认知，更极大改善了患者预后，标志着 IEI 领域已进入精准医学的新时代。

关键词:

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.

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