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Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.

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

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1
Rheumatology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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.

PMID:
22019780
DOI:
10.1038/ng.975
[Indexed for MEDLINE]
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