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. 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.
Original language | English |
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Pages (from-to) | 1186-1188 |
Number of pages | 3 |
Journal | Nature Genetics |
Volume | 43 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2011 |
ASJC Scopus subject areas
- Genetics