Department of Immunobiology, Yale University School of Medicine, New Haven, CT 06511.
Department of Pathology, Yale University School of Medicine, New Haven, CT 06511.
Proc Natl Acad Sci U S A. 2020 Dec 1;117(48):30649-30660. doi: 10.1073/pnas.2007206117. Epub 2020 Nov 16.
Myasthenia gravis (MG) is a neuromuscular, autoimmune disease caused by autoantibodies that target postsynaptic proteins, primarily the acetylcholine receptor (AChR) and inhibit signaling at the neuromuscular junction. The majority of patients under 50 y with AChR autoantibody MG have thymic lymphofollicular hyperplasia. The MG thymus is a reservoir of plasma cells that secrete disease-causing AChR autoantibodies and although thymectomy improves clinical scores, many patients fail to achieve complete stable remission without additional immunosuppressive treatments. We speculate that thymus-associated B cells and plasma cells persist in the circulation after thymectomy and that their persistence could explain incomplete responses to resection. We studied patients enrolled in a randomized clinical trial and used complementary modalities of B cell repertoire sequencing to characterize the thymus B cell repertoire and identify B cell clones that resided in the thymus and circulation before and 12 mo after thymectomy. Thymus-associated B cell clones were detected in the circulation by both mRNA-based and genomic DNA-based sequencing. These antigen-experienced B cells persisted in the circulation after thymectomy. Many circulating thymus-associated B cell clones were inferred to have originated and initially matured in the thymus before emigration from the thymus to the circulation. The persistence of thymus-associated B cells correlated with less favorable changes in clinical symptom measures, steroid dose required to manage symptoms, and marginal changes in AChR autoantibody titer. This investigation indicates that the diminished clinical response to thymectomy is related to persistent circulating thymus-associated B cell clones.
重症肌无力(MG)是一种由针对突触后蛋白的自身抗体引起的神经肌肉自身免疫性疾病,主要靶标是乙酰胆碱受体(AChR),并抑制神经肌肉接头的信号传递。50 岁以下、抗 AChR 自身抗体阳性的大多数 MG 患者存在胸腺淋巴滤泡增生。MG 胸腺是浆细胞的储存库,这些浆细胞分泌导致疾病的 AChR 自身抗体,尽管胸腺切除术可改善临床评分,但许多患者在没有额外免疫抑制治疗的情况下无法实现完全稳定缓解。我们推测,胸腺切除术后,与胸腺相关的 B 细胞和浆细胞在循环中持续存在,其持续存在可能解释了对切除术的不完全反应。我们研究了入组随机临床试验的患者,并采用互补的 B 细胞库测序方法来描述胸腺 B 细胞库,并鉴定在胸腺切除术前后 12 个月内存在于胸腺和循环中的 B 细胞克隆。通过基于 mRNA 的和基于基因组 DNA 的测序都可以在循环中检测到与胸腺相关的 B 细胞克隆。这些抗原经验的 B 细胞在胸腺切除术后仍存在于循环中。推断许多循环中的与胸腺相关的 B 细胞克隆起源于并最初在胸腺中成熟,然后从胸腺迁移到循环中。与胸腺相关的 B 细胞的持续存在与临床症状测量、管理症状所需的类固醇剂量以及 AChR 自身抗体滴度的轻微变化相关,这些变化更不利。该研究表明,胸腺切除术的临床反应减弱与持续存在的循环与胸腺相关的 B 细胞克隆有关。