Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

摘要: Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As typical for many other multifactorial disorders, much of the heritability SLE remains unknown. We identified rare autosomal recessive form SLE, in which autozygome analysis revealed null mutation DNASE1L3 gene. The DNASE1L3-related we describe was always pediatric onset and correlated with high frequency nephritis. Our findings confirm critical role impaired clearance degraded DNA pathogenesis.