Patients with recessive dystrophic epidermolysis bullosa (RDEB) suffer from acute and chronic post-bullous wounds along with impaired skin healing. These issues are attributed not only to mucocutaneous fragility and abnormal healing directly related to quantitative and/or qualitative constitutional abnormalities of collagen VII but also to a contingent cutaneous and systemic inflammatory component. This inflammatory aspect contributes to the perpetuation of skin lesions and delayed healing. Our primary objective is to define the systemic immunological/inflammatory signature of patients with RDEB with an aim to develop a strategy that involves using stem cells with high immunomodulatory/anti-inflammatory capacity such as allogeneic placental stem cells (WJ-MSCs and trophoblasts).
Patients aged 18 to 80 years old
Clinically, histologically, and/or genetically confirmed intermediate, reversed or generalized, moderate to severe EBDR
Adults aged 18 to 80 years old
PBMC healthy donors: subjects who have donated blood to the EFS according to the indication criteria who have consented to the use of their samples for research purposes.
EBH with no definite diagnosis or other than EBDR intermediate, reversed or generalized
Systemic anti-inflammatory or immunosuppressive therapy for less than one month
Refusal of skin biopsy
Acute or chronic systemic or cutaneous inflammatory disease at the time of sampling
Patients with recessive dystrophic epidermolysis bullosa and healthy control patients
Cohort
Prospective
Sampling
Other interventionBlood sampling Skin biopsy Collection of soiled bandages
Analysis of the cellular (PBMC) and cytokine (serum) immunological signature in the peripheral blood of EBDR subjects and healthy controls.
Cellular, cytokine, and lipid immunological signatures of immune cells
Immune cells are purified from skin biopsies and soiled dressings of EBDR patients and healthy controls. Individual data will be correlated to the severity grade of EBD.
Immunogenicity and impact of WJ-MSCs and trophoblasts
Immunogenicity and impact of WJ-MSCs and trophoblasts on cellular, cytokine, and lipid immunological signatures, activation, and proliferation of peripheral or cutaneous immune cells from EBDR patients and healthy controls, using in-vitro models.
Immunogenicity and impact of EV/Ex
Immunogenicity and impact of EV/Ex on cellular, cytokine, and lipid immunological signatures, activation, and proliferation of peripheral or cutaneous immune cells of EBDR patients and healthy controls, using in-vitro models.
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