Infection, Immunity and Inflammation Research & Teaching Department, Immunobiology Section, UCL Great Ormond Street Institute of Child Health, London, UK.
Infection, Immunity and Inflammation Research & Teaching Department, Molecular and Cellular Immunology Section, UCL Great Ormond Street Institute of Child Health, London, UK.
Exp Dermatol. 2021 Jul;30(7):887-896. doi: 10.1111/exd.14314. Epub 2021 Mar 11.
Genetic skin diseases, also known as genodermatoses, are inherited disorders affecting skin and constitute a large and heterogeneous group of diseases. While genodermatoses are rare with the prevalence rate of less than 1 in 50,000 - 200,000, they frequently occur at birth or early in life and are generally chronic, severe, and could be life-threatening. The quality of life of patients and their families are severely compromised by the negative psychosocial impact of disease, physical manifestations, and the lack or loss of autonomy. Currently, there are no curative treatments for these conditions. Ex vivo gene modification therapy that involves modification or correction of mutant genes in patients' cells in vitro and then transplanted back to patients to restore functional gene expression has being developed for genodermatoses. In this review, the ex vivo gene modification therapy strategies for genodermatoses are reviewed, focusing on current advances in gene modification and correction in patients' cells and delivery of genetically modified cells to patients with discussions on gene therapy trials which have been performed in this area.
遗传性皮肤疾病，又称遗传性皮肤病，是一组影响皮肤的遗传性疾病，具有较大的异质性。尽管遗传性皮肤病的发病率低于每 5 万至 20 万分之一，但它们经常在出生时或生命早期发生，通常是慢性的、严重的，并且可能危及生命。疾病的负面社会心理影响、身体表现以及缺乏或丧失自主性，严重影响了患者及其家属的生活质量。目前，这些疾病还没有治愈方法。目前正在开发体外基因修饰疗法，该疗法涉及体外修饰或纠正患者细胞中的突变基因，然后将其移植回患者体内以恢复功能性基因表达，用于治疗遗传性皮肤病。在这篇综述中，我们回顾了遗传性皮肤病的体外基因修饰治疗策略，重点介绍了目前在患者细胞中的基因修饰和纠正方面的进展，以及将基因修饰细胞递送给患者的方法，并讨论了该领域已进行的基因治疗试验。
