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血友病 A/B。

Hemophilia A/B.

机构信息

Boston Children's Hospital, Boston Hemophilia Center, 300 Longwood Avenue, Boston, MA, USA.

出版信息

Hematol Oncol Clin North Am. 2022 Aug;36(4):797-812. doi: 10.1016/j.hoc.2022.03.009. Epub 2022 Jun 27.

Abstract

Adeno-associated virus (AAV)-mediated gene transfer has successfully raised, and in some cases transiently normalized, FVIII or FIX activity levels in adults with severe hemophilia. Raising FVIII/IX levels, particularly greater than ∼15 IU/dL (mild deficiency), corresponds to a marked decrease in spontaneous and provoked bleeding, dramatic reduction in factor concentrate use, and improved quality of life (QoL). Limited understanding of innate and adaptive immune system responses and hepatocyte transgene expression and stress responses to AAV-mediated gene transfer contribute to the variability in initial and long-term factor protein expression. Lentiviral (LV) and CRISPR/Cas-9 gene therapy approaches may further bolster the range of eligible participants and improve transgene expression and durability.

摘要

腺相关病毒 (AAV) 介导的基因转移已成功提高了重度血友病成人的 FVIII 或 FIX 活性水平,在某些情况下可短暂恢复正常。提高 FVIII/IX 水平,特别是大于 ∼15 IU/dL(轻度缺乏),与自发性和诱发性出血明显减少、因子浓缩物使用显著减少以及生活质量(QoL)改善相关。对先天和适应性免疫系统反应以及肝细胞中转基因表达和对 AAV 介导的基因转移的应激反应的有限了解导致初始和长期因子蛋白表达的变异性。慢病毒 (LV) 和 CRISPR/Cas-9 基因治疗方法可能进一步扩大合格参与者的范围,并提高转基因的表达和持久性。

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