Rheumatology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.
Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.
系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，会导致大量的发病率。与许多其他多因素疾病一样，SLE 的大部分遗传性仍不清楚。我们发现了一种罕见的常染色体隐性遗传形式的 SLE，其中自体分析显示 DNASE1L3 基因的无效突变。我们描述的与 DNASE1L3 相关的 SLE 总是在儿童时期发病，并与狼疮肾炎的高频率相关。我们的发现证实了降解 DNA 清除受损在 SLE 发病机制中的关键作用。
