Pediatric nephrology and rheumatology Unit, Hôpital Femme Mère Enfant, Lyon, Bron, Université de Lyon, Lyon, CNRS UMR5239, France.
Pediatr Rheumatol Online J. 2012 Aug 10;10(1):21. doi: 10.1186/1546-0096-10-21.
The pathogenesis of Systemic Lupus Erythematosus (SLE) is complex and remains poorly understood. Infectious triggers, genetic background, immunological abnormalities and environmental factors are all supposed to interact for the disease development. Familial SLE as well as early-onset juvenile SLE studies make it possible to identify monogenic causes of SLE. Identification of these rare inherited conditions is of great interest to understand both SLE pathogenesis and molecular human tolerance mechanisms. Complement deficiencies, genetic overproduction of interferon-α and apoptosis defects are the main situations that can lead to monogenic SLE.Here, we review the different genes involved in monogenic SLE and highlight their importance in SLE pathogenesis.
系统性红斑狼疮（SLE）的发病机制复杂，目前仍知之甚少。感染诱因、遗传背景、免疫异常和环境因素都被认为会相互作用导致疾病的发生。家族性 SLE 和早发性幼年 SLE 的研究使得确定 SLE 的单基因病因成为可能。识别这些罕见的遗传性疾病对于了解 SLE 的发病机制和分子人类耐受机制都具有重要意义。补体缺陷、干扰素-α的遗传过度产生和细胞凋亡缺陷是导致单基因 SLE 的主要情况。在这里，我们回顾了单基因 SLE 相关的不同基因，并强调了它们在 SLE 发病机制中的重要性。
