{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Elkon KB"],"funding":["NINDS NIH HHS","NIAMS NIH HHS"],"pagination":["803-12"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3216059"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(11)"],"pubmed_abstract":["Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease associated with multiple immunologic abnormalities. Prominent among these is upregulation of type I interferon (IFN)?a powerful immune adjuvant. IFN is, in part, produced in SLE in response to autoantigens in the form of self-nucleic acids and their associated nuclear proteins. Sources of these autoantigens include apoptotic and necrotic cells as well as neutrophils undergoing a specific form of cell death called NETosis. Although plasmacytoid dendritic cells are the main producers of IFN-a, other cells are important regulators of this process. Both genetic and environmental risk factors play a role in the development and pathogenesis of SLE. Further highlighting the importance of IFN, candidate gene and genome-wide association studies have identified a number of genes involved in type I IFN pathways associated with SLE. In this review, 3 monogenic deficiencies that result in lupus-like phenotypes and several polygenic variants that have been consistently associated with SLE are highlighted, and the relationship of these genes to IFN-a production is discussed. Clinical associations of the type I IFN pathway and the use of IFN-blocking agents as therapeutic agents in SLE are also reviewed."],"journal":["Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research"],"pubmed_title":["Type I interferon and systemic lupus erythematosus."],"pmcid":["PMC3216059"],"funding_grant_id":["T32AR007108","R01 AR48796","R01 NS065933"],"pubmed_authors":["Stone VV","Elkon KB"],"additional_accession":[]},"is_claimable":false,"name":"Type I interferon and systemic lupus erythematosus.","description":"Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease associated with multiple immunologic abnormalities. Prominent among these is upregulation of type I interferon (IFN)?a powerful immune adjuvant. IFN is, in part, produced in SLE in response to autoantigens in the form of self-nucleic acids and their associated nuclear proteins. Sources of these autoantigens include apoptotic and necrotic cells as well as neutrophils undergoing a specific form of cell death called NETosis. Although plasmacytoid dendritic cells are the main producers of IFN-a, other cells are important regulators of this process. Both genetic and environmental risk factors play a role in the development and pathogenesis of SLE. Further highlighting the importance of IFN, candidate gene and genome-wide association studies have identified a number of genes involved in type I IFN pathways associated with SLE. In this review, 3 monogenic deficiencies that result in lupus-like phenotypes and several polygenic variants that have been consistently associated with SLE are highlighted, and the relationship of these genes to IFN-a production is discussed. Clinical associations of the type I IFN pathway and the use of IFN-blocking agents as therapeutic agents in SLE are also reviewed.","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Nov","modification":"2020-11-09T08:04:32Z","creation":"2019-03-27T00:45:58Z"},"accession":"S-EPMC3216059","cross_references":{"pubmed":["21859344"],"doi":["10.1089/jir.2011.0045"]}}