1.4.1 Dystrophic Epidermolysis Bullosa (DEB)
DEB is a genetic disease involving a defect in the gene for type VII collagen (Gardella et al. 1996). However, it may also involve autoimmune mechanisms in the period of mutation or afterward. IFN-y could also be involved by altering gene expression (Buntinx et al. 2004). Based on evidence in the literature of immune system involvement and signs of inflammation in a patient suffering severely from DEB, we treated two cases with striking results. For example, in one case a 14-year-old boy with DEB from birth was given a course of anti-IFN-y antibodies intramuscularly. Before treatment, his temperature was 39.2°C. Skin on the back of his neck, lower back, and upper and lower extremities was covered with erosive, ulcerative lesions up to 15 cm in diameter with pustular, hemorrhagic scabs. Around the lesions were painful areas of hyperemia and swelling, on the mucous membranes of the mouth and genitals were erosive lesions, and nails were absent from the fingers and toes. After the second injection of anti-IFN-Y, his temperature normalized. On day 2 after the start of treatment, the pain, swelling, and hyperemia around the ulcerative lesions at the back of the neck disappeared, as did signs of infectious damage to the skin on the back. By day 5 of the treatment, the erosive lesions on the mucous membrane of the mouth epithelialized. Seven days after the start of treatment, active epithelialization of the ulcerative skin lesions was observed. The child began to eat, his general sense of well-being significantly improved, and his sleep normalized (Korotky et al. 2004).
Very low levels of IFN-y, IL-1, and IL-2 have been found to be produced in vitro by peripheral blood mononuclear cells from patients with severe forms of EB (recessive dystrophic and dominant dystrophic) as compared to sex- and age-matched controls (Chopra et al. 1992). Low cytokine production in vitro is typical of autoimmune diseases and may in those cases be due to exhaustion from overproduction of these cytokines. In addition, persons with more severe forms of EB have demonstrated significant reductions in natural-killer (NK) cell activity (Tyring et al. 1989). Deficiencies in NK cells have been shown to be associated with certain autoimmune diseases (Baxter and Smyth 2002). This case brought us strong emotional satisfaction. In future, we plan to test the treatment using humanized monoclonal antibodies to various cytokines and anti-CD20.
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