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Al-Mayouf SM Sunker A Abdwani R Abrawi SA Almurshedi F Alhashmi N Al Sonbul A Sewairi W Qari A Abdallah E Al-Owain M Al Motywee S Al-Rayes H Hashem M Khalak H Al-Jebali L Alkuraya FS 《Nature genetics》2011,43(12):1186-1188
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. 相似文献
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