Abstract
Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash1,2. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome3. 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.
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Acknowledgements
We thank R. Germain and T. Watanabe for their comments on this manuscript. K. Tao and S. Kondo provided clinical details and are responsible for the medical care of many of the patients described.
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Yasutomo, K., Horiuchi, T., Kagami, S. et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet 28, 313–314 (2001). https://doi.org/10.1038/91070
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DOI: https://doi.org/10.1038/91070
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