Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
- PMID: 22019780
- DOI: "VSports app下载" 10.1038/ng.975
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
Abstract
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 VSports手机版. 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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