Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa-5-Year Outcomes
Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa-5-Year Outcomes
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DOI：
10.1056/nejmoa2108544
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发表时间：
2021-12-09
影响因子：
158.5
通讯作者：
Hirsch, Tobias
中科院分区：
文献类型：
--
作者：
Kueckelhaus, Maximilian;Rothoeft, Tobias;Hirsch, Tobias
遗传性交界性大疱性表皮病是一种严重的遗传性皮肤病，由于表皮结构和机械的脆弱性而导致表皮缺失。交界性大疱性表皮炎尚无确定的治疗方法。我们以前曾报道，遗传校正自体表皮培养再生几乎整个，功能齐全的表皮上的孩子谁有一个毁灭性的形式交界性大疱性表皮。我们现在报告该患者的长期临床结局。（由POR FESR 2014-2020 - Regione埃米利亚-罗马涅和其他人资助。简要报告：交界性大疱性表皮的转基因表皮1例LAMB 3基因隐性功能缺失突变引起的交界性大疱性表皮患儿，其总体表面积的80%表皮缺失，接受了1 m2遗传校正的自体表皮培养。报告了移植后约5年的结果。
Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa. We previously reported that genetically corrected autologous epidermal cultures regenerated almost an entire, fully functional epidermis on a child who had a devastating form of junctional epidermolysis bullosa. We now report long-term clinical outcomes in this patient. (Funded by POR FESR 2014-2020 - Regione Emilia-Romagna and others.)Brief Report: Transgenic Epidermis in Junctional Epidermolysis Bullosa A child with junctional epidermolysis bullosa caused by a recessive loss-of-function mutation in LAMB3 who had epidermal loss on 80% of his total body-surface area received 1 m(2) of genetically corrected autologous epidermal cultures. Outcomes at approximately 5 years after transplantation are reported.