van Dooren H J, Atisha-Fregoso Y, Dorjée A L, Huizinga T W J, Mackay M, Aranow C, Toes R E M, Diamond B, Suurmond J
Department of rheumatology, Leiden University Medical Center, Leiden, The Netherlands.
Center for autoimmune, musculoskeletal and hematopoietic diseases, The Feinstein Institutes for Medical Research, Manhasset, NY, United States.
bioRxiv. 2024 Nov 19:2024.11.18.624119. doi: 10.1101/2024.11.18.624119.
Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by an array of autoantibodies, in particular anti-nuclear antibodies (ANA). The disease is also hallmarked by an expansion of plasmablasts (PB) in peripheral blood. How these relate to autoantibody production is not clear. Here, we aimed to understand B cell alterations in SLE and their relationship to immunoglobulin levels and autoantibody production. We demonstrate that a subgroup of SLE patients is characterized by a high frequency of PB relative to memory B cells (high PB/M). Patients with this phenotype more frequently had high disease activity. Despite low overall frequencies of memory B cells, these patients exhibited an increased activation in the switched CD27+ memory compartment and a strong IFN signature in PB. Repertoire analysis revealed a highly polyclonal expansion and enrichment for IgG1 expressing PB in patients with a high PB/M ratio which was reflected in increased serum IgG levels. Importantly, the hyperactive B cell phenotype was highly enriched in patients harboring Sm/RNP autoantibodies (OR: 9.17 (2.97-26.0)). In summary, we show for the first time a direct relationship between IFN and PB expansion in a subgroup of SLE patients, highly enriched in those harboring Sm/RNP antibodies. These results provide insight into the pathways leading to B cell hyperactivity and autoantibody production which may guide the tailoring of B cell- and IFN-targeted therapies.
系统性红斑狼疮(SLE)是一种自身免疫性疾病,其特征是存在一系列自身抗体,尤其是抗核抗体(ANA)。该疾病在外周血中还以浆母细胞(PB)扩增为特征。目前尚不清楚这些与自身抗体产生之间的关系。在此,我们旨在了解SLE患者的B细胞改变及其与免疫球蛋白水平和自身抗体产生的关系。我们证明,一部分SLE患者的特征是相对于记忆B细胞而言,PB频率较高(高PB/M)。具有这种表型的患者疾病活动度更高的情况更为常见。尽管记忆B细胞的总体频率较低,但这些患者在转换后的CD27+记忆区室中表现出激活增加,并且PB中具有强烈的IFN特征。谱系分析显示,PB/M比率高的患者中表达IgG1的PB高度多克隆扩增并富集,这反映在血清IgG水平升高上。重要的是,在携带Sm/RNP自身抗体的患者中,高活性B细胞表型高度富集(优势比:9.17(2.97 - 26.0))。总之,我们首次展示了在一部分SLE患者中,IFN与PB扩增之间的直接关系,在携带Sm/RNP抗体的患者中高度富集。这些结果为导致B细胞过度活跃和自身抗体产生的途径提供了见解,这可能指导针对B细胞和IFN的靶向治疗的定制。