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Nat Genet. 2001 Aug;28(4):313-4.

Mutation of DNASE1 in people with systemic lupus erythematosus.

Author information

1
Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima 770-8503, Japan. yasutomo@clin.med.tokushima-u.ac.jp

Abstract

Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. 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.

PMID:
11479590
DOI:
10.1038/91070
[Indexed for MEDLINE]

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