biostudies-literatureJensen MANIDDK NIH HHSNCRR NIH HHSNIAID NIH HHSNIAMS NIH HHS596-601https://www.ebi.ac.uk/biostudies/studies/S-EPMC3910490biostudies-literatureUnknown72(4)<h4>Objective</h4>Hyperactivity of the type I interferon (IFN) pathway is involved in the pathogenesis of systemic lupus erythematosus (SLE). Immunoglobulin like transcript (ILT3) is an immunohibitory transmembrane molecule which is induced by type I IFNs. ILT3 is expressed by plasmacytoid dendritic cells (PDCs), monocytoid dendritic cells (MDCs), and monocytes/macrophages. Given the pathogenic role of IFN in SLE, we hypothesised that the IFN-induced immunosuppressive ILT3 receptor may be dysfunctional in human SLE.<h4>Methods</h4>132 European-derived and 79 Hispanic-American SLE patients were genotyped for two coding-change single nucleotide polymorphisms (SNPs) predicted to interfere with protein folding in ILT3 (rs11540761 and rs1048801). 116 control DNA samples and sera from healthy coAnnals of the rheumatic diseasesFunctional genetic polymorphisms in ILT3 are associated with decreased surface expression on dendritic cells and increased serum cytokines in lupus patients.PMC3910490UL1 RR024999AI071651P30 DK042086K08 AI083790P30 DK42086L30 AI071651R01 AR060861Jensen MAKumar AAKumabe MPatterson KCFranek BSNiewold TBfalseFunctional genetic polymorphisms in ILT3 are associated with decreased surface expression on dendritic cells and increased serum cytokines in lupus patients.<h4>Objective</h4>Hyperactivity of the type I interferon (IFN) pathway is involved in the pathogenesis of systemic lupus erythematosus (SLE). Immunoglobulin like transcript (ILT3) is an immunohibitory transmembrane molecule which is induced by type I IFNs. ILT3 is expressed by plasmacytoid dendritic cells (PDCs), monocytoid dendritic cells (MDCs), and monocytes/macrophages. Given the pathogenic role of IFN in SLE, we hypothesised that the IFN-induced immunosuppressive ILT3 receptor may be dysfunctional in human SLE.<h4>Methods</h4>132 European-derived and 79 Hispanic-American SLE patients were genotyped for two coding-change single nucleotide polymorphisms (SNPs) predicted to interfere with protein folding in ILT3 (rs11540761 and rs1048801). 116 control DNA samples and sera from healthy co2013-01-01T00:00:00Z2013 Apr2026-05-03T02:14:12.262Z2019-03-27T01:21:05ZS-EPMC39104902290425910.1136/annrheumdis-2012-202024