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A research team from the Infinity laboratory in Toulouse is advancing in the knowledge of a rare but very disabling skin disease. Their discovery opens up hope for treatment.
It is one of the rare and very disabling genetic diseases. The recessive dystrophic epidermolysis (RDEB) concerns a birth over one million and manifests itself by a skin condition in the form of blisters and ulcers from the first months of life. With possible complications such as skin infections and healing complications, dental and digestive problems.
“This skin disease is not cured and the dissociation of cells is also manifested in all mucous membranes. The only treatments make it possible to relieve patient pain and it does not always work,” poses Nabila Jabrane-Ferrat, researcher at the Infinity laboratory from Toulouse.
“Patient killing cells are like soldiers without a weapon, we seek to rebooster them”
The immunologist has just published, in collaboration with a team from the Saint-Louis Hospital (Paris Cité), promising works in the journal Nature Communications. The researchers looked more closely at the immune system of 12 patients with the disease, apart from any episode of degradation. “We noticed an activation of their immune system and a non-response then. We see that natural killer cells are not able to kill, as if they were unarmed soldiers, and that, we did not know it in the Patients.
-This discovery makes it possible to expand knowledge beyond the genetic component. “We are trying in particular to see how we could boost the patient’s immune system. This opens up treatment prospects,” concludes the immunologist.
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