First Department of Medicine, University Medical Center of the Johannes-Gutenberg University Mainz, Mainz, Germany.
Division of Rheumatology, IRCCS Fondazione Policlinico San Matteo, Lombardy, Pavia, Italy.
Autoimmun Rev. 2015 Nov;14(11):1005-18. doi: 10.1016/j.autrev.2015.07.003. Epub 2015 Jul 9.
Autoimmune diseases, such as rheumatoid arthritis, multiple sclerosis, autoimmune hepatitis and inflammatory bowel disease, have complex pathogeneses and the factors which cause these disorders are not well understood. But all have in common that they arise from a dysfunction of the immune system, interpreting self components as foreign antigens. Systemic lupus erythematosus (SLE) is one of these complex inflammatory disorders that mainly affects women and can lead to inflammation and severe damage of virtually any tissue and organ. Recently, the application of advanced techniques of genome-wide scanning revealed more genetic information about SLE than previously possible. These case-control or family-based studies have provided evidence that SLE susceptibility is based (with a few exceptions) on an individual accumulation of various risk alleles triggered by environmental factors and also help to explain the discrepancies in SLE susceptibility between different populations or ethnicities. Moreover, during the past years new therapies (autologous stem cell transplantation, B cell depletion) and improved conventional treatment options (corticosteroids, traditional and new immune-suppressants like mycophenolate mofetile) changed the perspective in SLE therapeutic approaches. Thus, this article reviews genetic aspects of this autoimmune disease, summarizes clinical aspects of SLE and provides a general overview of conventional and new therapeutic approaches in SLE.
自身免疫性疾病，如类风湿关节炎、多发性硬化症、自身免疫性肝炎和炎症性肠病，其发病机制复杂，导致这些疾病的因素尚不清楚。但它们都有一个共同的特点，即它们源于免疫系统的功能障碍，将自身成分解释为外来抗原。系统性红斑狼疮（SLE）就是其中一种复杂的炎症性疾病，主要影响女性，可导致几乎任何组织和器官的炎症和严重损伤。最近，全基因组扫描的先进技术的应用揭示了比以前更多的关于 SLE 的遗传信息。这些病例对照或基于家族的研究提供了证据，表明 SLE 的易感性（除了少数例外）是基于个体积累的各种风险等位基因，这些风险等位基因由环境因素触发，也有助于解释不同人群或种族之间 SLE 易感性的差异。此外，在过去的几年中，新的治疗方法（自体干细胞移植、B 细胞耗竭）和改进的常规治疗选择（皮质类固醇、传统和新型免疫抑制剂，如霉酚酸酯）改变了 SLE 治疗方法的观点。因此，本文综述了这种自身免疫性疾病的遗传方面，总结了 SLE 的临床方面，并概述了 SLE 中常规和新的治疗方法。
