基因治疗在免疫出生错误中的研究进展  

Advances in gene therapy for inborn errors of immunity

作　　者：李婷(综述)[1] 宋红梅(审校)[1] LI Ting;SONG Hong-Mei(Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院儿科,北京100730

出　　处：《中国当代儿科杂志》2024年第8期865-870,共6页Chinese Journal of Contemporary Pediatrics

基　　金：国家重点研发计划(2021YFC2702001);北京协和医院中央高水平医院临床科研专项(2022-PUMCH-B-079)。

摘　　要：免疫出生错误(inborn errors of immunity,IEI)是由遗传因素导致免疫结构或功能障碍所致的一类疾病,可累及固有免疫和适应性免疫。2022年IEI新分类包含485种IEI,分为十大类疾病。近年来随着分子生物学的快速发展,许多IEI的具体发病机制得以揭示,使得基因治疗在该类疾病的临床前和临床研究成为可能。该文综述基因治疗在IEI中的研究和应用,以进一步提高临床医生对IEI诊治的认知。Inborn errors of immunity(IEI)are a diverse group of disorders caused by defects in immune system structure or function,involving both innate and adaptive immunity.The 2022 update of the IEI classification includes 485 distinct disorders,categorized into ten major disease groups.With the rapid development of molecular biology,the specific pathogenesis of many IEI has been revealed,making gene therapy possible in preclinical and clinical research of this type of disease.This article reviews the advancements in gene therapy for IEI,aiming to increase awareness and understanding of these disorders.

关 键 词：免疫出生错误 基因治疗 重症联合免疫缺陷 湿疹血小板减少伴免疫缺陷综合征 腺苷脱氨酶2缺乏症 

分 类 号：R450[医药卫生—治疗学] R725.9[医药卫生—临床医学]