期刊
NATURE GENETICS
卷 43, 期 12, 页码 1186-1188出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.975
关键词
-
资金
- Dubai Harvard Foundation for Medical Research
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.
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