X连锁重症联合免疫缺陷病的根治治疗进展

doi:10.12372/jcp.2024.23e1107

摘要/Abstract

摘要：

X连锁重症联合免疫缺陷病（X-SCID）是重症联合免疫缺陷病中最常见的类型，典型的免疫学特征是成熟T细胞和NK细胞完全缺失而B细胞数量正常或升高。临床特征是从婴儿早期即出现复发和严重的机会性感染。该病患者往往起病早，临床表现重，预后差，如果没有得到及时的诊断和治疗，大多在2岁以内死亡。造血干细胞移植（haematopoietic stem cell transplantation，HSCT）是首选的治疗方法，如果采用HLA 匹配的同胞供体，生存率极高（>90%）。然而，当使用替代供体时，成功率和存活率往往较低。因此基因治疗已被开发为替代疗法。

关键词: X连锁重症联合免疫缺陷, 造血干细胞移植, 基因治疗, 基因编辑

Abstract:

X-linked severe combined immunodeficiency (X-SCID) is the most common type of severe combined immunodeficiency disease. The typical immunological feature is the complete absence of mature T cells and NK cells with normal or elevated B cell numbers. The clinical features are recurrent and severe opportunistic infections from early infancy. The patients often have early onset, severe clinical manifestations and poor prognosis. Without prompt diagnosis and treatment, most patients die within the age of two. Hematopoietic stem cell transplantation is the preferred treatment and has a very high survival rate (>90 %) if HLA-matched sibling donors are used. However, when alternative donors are used, the success rate and survival rate are often lower. Gene therapy has been developed as an alternative therapy.

Key words: X-linked severe combined immunodeficiency, hematopoietic stem cell transplantation, gene therapy, gene editing

柴星苑, 张志勇, 赵晓东. X连锁重症联合免疫缺陷病的根治治疗进展[J]. 临床儿科杂志, 2024, 42(7): 659-662.

CHAI Xingyuan, ZHANG Zhiyong, ZHAO Xiaodong. Progress in radical treatment of X-linked severe combined immunodeficiency[J]. Journal of Clinical Pediatrics, 2024, 42(7): 659-662.

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