Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering condition caused by pathogenic variants in the COL7A1 gene and may present with different disease endotypes. In this study, the authors characterise a cohort of RDEB adults to highlight variations in immune cell phenotypes and metabolic profiles, particularly in T cells and NK cells.
- Nell Hirt
- Enzo Manchon
- Reem Al-Daccak
