Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 385, Issue 24, Pages 2264-2270Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa2108544
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Funding
- Programma Operativo Regionale Fondo Europeo di Sviluppo Regionale (POR FESR) 2014-2020 - Regione Emilia-Romagna [E8IJ10000120007, E92I16000220005]
- Italian Ministry of Education, University, and Research (MIUR) [CTN01_E48C13000140008]
- Lombardia e Ricerca Award
- European Research Council [101019289]
- DEBRA Alto Adige
- European Research Council (ERC) [101019289] Funding Source: European Research Council (ERC)
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This study reports long-term clinical outcomes in a child with a severe genetic skin disease who received genetically corrected autologous epidermal cultures.
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.
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