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- Publisher
- Springer Journals
- Copyright
- Copyright © 2001 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/91070
- Publisher site
- See Article on Publisher Site
Abstract
Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash 1,2 . Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome 3 . Here we describe two patients with a heterozygous nonsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extremely high immunoglobulin G titer against nucleosomal antigens. These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.
Journal
Nature Genetics – Springer Journals
Published: Aug 1, 2001