{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Weisenburger T"],"funding":["Deutsche Forschungsgemeinschaft"],"pagination":["1551"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6041390"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9"],"pubmed_abstract":["Autoantibodies against double-stranded DNA (anti-dsDNA) are a hallmark of systemic lupus erythematosus (SLE). It is well documented that anti-dsDNA reactive B lymphocytes are normally controlled by immune self-tolerance mechanisms operating at several levels. The evolution of high levels of IgG anti-dsDNA in SLE is dependent on somatic hypermutation and clonal selection, presumably in germinal centers from non-autoreactive B cells. Twin studies as well as genetic studies in mice indicate a very strong genetic contribution for the development of anti-dsDNA as well as SLE. Only few single gene defects with a monogenic Mendelian inheritance have been described so far that are directly responsible for the development of anti-dsDNA and SLE. Recently, among other mutations, rare null-alleles for"],"journal":["Frontiers in immunology"],"pubmed_title":["Epistatic Interactions Between Mutations of Deoxyribonuclease 1-Like 3 and the Inhibitory Fc Gamma Receptor IIB Result in Very Early and Massive Autoantibodies Against Double-Stranded DNA."],"pmcid":["PMC6041390"],"funding_grant_id":["TRR130"],"pubmed_authors":["Acs A","Weisenburger T","von Neubeck B","Ebert N","Schneider A","Schreyer D","Winkler TH"],"additional_accession":[]},"is_claimable":false,"name":"Epistatic Interactions Between Mutations of Deoxyribonuclease 1-Like 3 and the Inhibitory Fc Gamma Receptor IIB Result in Very Early and Massive Autoantibodies Against Double-Stranded DNA.","description":"Autoantibodies against double-stranded DNA (anti-dsDNA) are a hallmark of systemic lupus erythematosus (SLE). It is well documented that anti-dsDNA reactive B lymphocytes are normally controlled by immune self-tolerance mechanisms operating at several levels. The evolution of high levels of IgG anti-dsDNA in SLE is dependent on somatic hypermutation and clonal selection, presumably in germinal centers from non-autoreactive B cells. Twin studies as well as genetic studies in mice indicate a very strong genetic contribution for the development of anti-dsDNA as well as SLE. Only few single gene defects with a monogenic Mendelian inheritance have been described so far that are directly responsible for the development of anti-dsDNA and SLE. Recently, among other mutations, rare null-alleles for","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2025-04-04T18:41:59.857Z","creation":"2019-03-26T23:47:23Z"},"accession":"S-EPMC6041390","cross_references":{"pubmed":["30026744"],"doi":["10.3389/fimmu.2018.01551"]}}