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Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterised by a broad spectrum of autoantibodies directed to ubiquitous intracellular antigens. DNase I is a key enzyme implicated in the clearance of extracellular DNA,1 and several studies point to defective DNase I as an important player in development of SLE.2–5 Yasutomo et al described two Japanese girls with SLE bearing a non-sense mutation, leading to a non-functional protein.4 We have described two Spanish patients with SLE with different mutations in the DNASE I gene and very low serum DNase I activity.5 Overall these mutations are very rare and do not explain the low DNase I activity found in most patients with SLE.
Competing interests: None.
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