Division of Rheumatology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.
Trends Mol Med. 2010 Feb;16(2):47-57. doi: 10.1016/j.molmed.2009.12.005. Epub 2010 Feb 4.
Systemic lupus erythematosus (SLE) is an autoimmune disease with manifestations derived from the involvement of multiple organs including the kidneys, joints, nervous system and hematopoietic organs. Immune system aberrations, as well as heritable, hormonal and environmental factors interplay in the expression of organ damage. Recent contributions from different fields have developed our understanding of SLE and reshaped current pathogenic models. Here, we review recent findings that deal with (i) genes associated with disease expression; (ii) immune cell molecular abnormalities that lead to autoimmune pathology; (iii) the role of hormones and sex chromosomes in the development of disease; and (iv) environmental and epigenetic factors thought to contribute to the expression of SLE. Finally, we highlight molecular defects intimately associated with the disease process of SLE that might represent ideal therapeutic targets and disease biomarkers.
系统性红斑狼疮（SLE）是一种自身免疫性疾病，其表现源于肾脏、关节、神经系统和造血器官等多个器官的受累。免疫系统异常以及遗传、激素和环境因素相互作用，导致器官损伤的发生。来自不同领域的最新研究进展加深了我们对 SLE 的认识，并重塑了当前的发病机制模型。在这里，我们回顾了最近的研究发现，涉及：（i）与疾病表型相关的基因；（ii）导致自身免疫病理的免疫细胞分子异常；（iii）激素和性染色体在疾病发生中的作用；以及（iv）被认为与 SLE 表达有关的环境和表观遗传因素。最后，我们重点介绍了与 SLE 疾病过程密切相关的分子缺陷，这些缺陷可能代表理想的治疗靶点和疾病生物标志物。
