Abstract：
Epidermolysis bullosa (EB) is a heritable skin blistering disease caused by variants in genes coding for proteins that secure cell-cell adhesion and attachment of the epidermis to the dermis. Interestingly, several proteins involved in inherited EB are also associated with autoimmune blistering diseases (AIBD). In this study, we present a long-term follow-up of 15 patients suffering from recessive dystrophic or junctional EB. From these patients, 62 sera were analysed for the presence of autoantibodies associated with AIBD. We show that patients suffering from recessive dystrophic EB (RDEB) are more susceptible to developing autoantibodies against skin proteins than patients suffering from junctional EB (70% vs. 20%, respectively). Interestingly, no correlation with age was observed. Most patients showed reactivity to Type XVII collagen/linear IgA bullous dermatosis autoantigen (n = 5; 33%), followed by BP230 (n = 4; 27%), Type VII collagen (n = 4; 27%) and laminin-332 (n = 1; 7%). The pathogenicity of these autoantibodies remains a subject for future experiments.
摘要：
大疱性表皮松解症（EB）是一种遗传性皮肤起泡疾病，由编码蛋白质的基因变体引起，这些蛋白质可确保细胞-细胞粘附和表皮与真皮的附着。有趣的是,与遗传性EB有关的几种蛋白质也与自身免疫性水疱病(AIBD)有关。在这项研究中,我们对15例隐性营养不良或交界性EB患者进行了长期随访.从这些病人身上,分析了62份血清中是否存在与AIBD相关的自身抗体。我们表明，与患有交界性EB的患者相比，患有隐性营养不良性EB（RDEB）的患者更容易产生针对皮肤蛋白的自身抗体（70％vs.20%,分别)。有趣的是,与年龄无关.大多数患者对XVII型胶原/线性IgA大疱性皮肤病自身抗原表现出反应性（n=5;33％），其次是BP230（n=4；27%），VII型胶原(n=4;27%)和层粘连蛋白-332(n=1;7%)。这些自身抗体的致病性仍然是未来实验的主题。
