Mutation of DNASE1 in people with systemic lupus erythematosus

By K. Yasutomo, T. Horiuchi, S. Kagami, H. Tsukamoto, C. Hashimura, M. Urushihara, Y. Kuroda. Nature Genetics, 2001

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NETosis: how vital is it? (2013, background): “Mice genetically deficient in DNase1 develop a syndrome similar to human lupus,(116) and humans with lupus have been found to have mutations within the DNase1 gene.(117) Moreover, evidence exists demonstrating the importance of DNase1 in the development of lupus nephritis, a disease in which cell-fr”
Intracellular toll-like receptors. (2010, background): “Additionally, human SLE patients exhibit lower serum DNase I activity and some mutations within the DNase I gene have been identified (Yasutomo et al., 2001).”
Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis (2010, background): “These data suggested that mutations in DNase1 did not account for impaired NET degradation in our cohort (21, 22).”
Trex1 prevents cell-intrinsic initiation of autoimmunity (2008, unknown): “For example, deficiency for the extracellular DNase I causes a lupus-like syndrome in mice (Napirei et al., 2000), and DNase I mutations in humans are associated with lupus (Yasutomo et al., 2001).”
Diverse novel functions of neutrophils in immunity, inflammation, and beyond (2013, result): “These results are also in line with a proposed contribution of NET degradation defects to SLE pathogenesis (Yasutomo et al., 2001; Hakkim et al., 2010), as well as a previous study on the presence of NET formation in autoimmune small vessel vasculitis (Kessenbrock et al., 2009).”