隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展

doi:10.35541/cjd.20210499

Abstract

Abstract: 【Abstract】 Recessive dystrophic epidermolysis bullosa （RDEB） is caused by loss-of-function mutations in the COL7A1 gene encoding the α-1 chain of type Ⅶ collagen, leading to reduced or absent expression of basement membrane type Ⅶ collagen （C7）. Currently, there is no effective treatment for this rare disease, and the management is mainly palliative and supportive. Gene therapy is expected to be an effective treatment of RDEB. This review summarizes current strategies of gene therapy in clinical trials for RDEB, as well as their progress, pros and cons, and prospects.

Key words: Epidermolysis bullosa, Gene therapy, Collagen type Ⅶ, Fibroblasts, Keratinocytes

Bao Yingqiu, Zhang Yanjun, Li Bo, Gong Jing, Fu Yu, Xu Zhe. Gene therapy for recessive dystrophic epidermolysis bullosa[J]. Chinese Journal of Dermatology, 2022, 55(8): 739-743.doi:10.35541/cjd.20210499

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Gene therapy for recessive dystrophic epidermolysis bullosa

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