原发性免疫缺陷病基因治疗的研究进展

Progress in research of gene therapy for primary immunodeficiency diseases

原发性免疫缺陷病(primary immunodeficiency disease,PID)严重影响患儿生活质量,免疫重建是根治PID的主要方法。多数PID患儿存在基因缺陷,基因治疗是潜能巨大的免疫重建方法,其旨在将目标基因导入患儿自身造血干细胞或造血前体细胞中,以修复细胞缺陷基因为目标,达到治疗疾病的目的。为进一步提高临床医生对PID的认知,本文就基因治疗在腺苷脱氨酶缺陷所致重症联合免疫缺陷病、X-连锁重症联合免疫缺陷病、X-连锁慢性肉芽肿病及湿疹血小板减少伴免疫缺陷综合征中的研究进展进行综述。

Primary immunodeficiency diseases(PID) seriously impact children’s quality of life. Immune reconstitution is the major therapy of PID. Almost all PID patients have genetic deficiencies, and gene therapy has become most potential treatment for immunity reconstruction. Gene therapy refers to modify hematopoietic cells or hematopoietic progenitor cells with target genes to restore the immune system. At this stage, clinical study of gene therapy has shown significant progresses in treatment of four kinds of PID(adenosine deaminase severe combined immunodeficiency, X-linked severe combined immunodeficiency disease, X-linked chronic granulomatous disease, and eczema thrombocytopenia with immunodeficiency syndrome). This article summarized the progresses of gene therapy for PID in recent years to benefit the clinic.