Department of Dermatology and Allergology, Philipps University, Marburg, Germany.
Surgery and Translational Medicine, Section of Dermatology, University of Florence, Florence, Italy.
Front Immunol. 2019 Jun 25;10:1418. doi: 10.3389/fimmu.2019.01418. eCollection 2019.
Pemphigus encompasses a heterogeneous group of autoimmune blistering diseases, which affect both mucous membranes and the skin. The disease usually runs a chronic-relapsing course, with a potentially devastating impact on the patients' quality of life. Pemphigus pathogenesis is related to IgG autoantibodies targeting various adhesion molecules in the epidermis, including desmoglein (Dsg) 1 and 3, major components of desmosomes. The pathogenic relevance of such autoantibodies has been largely demonstrated experimentally. IgG autoantibody binding to Dsg results in loss of epidermal keratinocyte adhesion, a phenomenon referred to as acantholysis. This in turn causes intra-epidermal blistering and the clinical appearance of flaccid blisters and erosions at involved sites. Since the advent of glucocorticoids, the overall prognosis of pemphigus has largely improved. However, mortality persists elevated, since long-term use of high dose corticosteroids and adjuvant steroid-sparing immunosuppressants portend a high risk of serious adverse events, especially infections. Recently, rituximab, a chimeric anti CD20 monoclonal antibody which induces B-cell depletion, has been shown to improve patients' survival, as early rituximab use results in higher disease remission rates, long term clinical response and faster prednisone tapering compared to conventional immunosuppressive therapies, leading to its approval as a first line therapy in pemphigus. Other anti B-cell therapies targeting B-cell receptor or downstream molecules are currently tried in clinical studies. More intriguingly, a preliminary study in a preclinical mouse model of pemphigus has shown promise regarding future therapeutic application of Chimeric Autoantibody Receptor T-cells engineered using Dsg domains to selectively target autoreactive B-cells. Conversely, previous studies from our group have demonstrated that B-cell depletion in pemphigus resulted in secondary impairment of T-cell function; this may account for the observed long-term remission following B-cell recovery in rituximab treated patients. Likewise, our data support the critical role of Dsg-specific T-cell clones in orchestrating the inflammatory response and B-cell activation in pemphigus. Monitoring autoreactive T-cells in patients may indeed provide further information on the role of these cells, and would be the starting point for designating therapies aimed at restoring the lost immune tolerance against Dsg. The present review focuses on current advances, unmet challenges and future perspectives of pemphigus management.
天疱疮是一组异质性自身免疫性水疱性疾病,影响黏膜和皮肤。该疾病通常呈慢性复发性病程,对患者的生活质量有潜在的破坏性影响。天疱疮的发病机制与针对表皮中各种黏附分子的 IgG 自身抗体有关,包括桥粒芯糖蛋白 1(Dsg)1 和 3,它们是桥粒的主要成分。此类自身抗体的致病性已在很大程度上得到了实验证实。IgG 自身抗体与 Dsg 结合会导致表皮角质形成细胞黏附丧失,这种现象称为棘层松解。这反过来又导致表皮内水疱形成,并导致受累部位出现松弛性水疱和糜烂的临床外观。自从糖皮质激素问世以来,天疱疮的总体预后已大大改善。然而,死亡率仍然居高不下,因为长期使用大剂量皮质类固醇和辅助性皮质类固醇免疫抑制剂会带来严重不良事件的高风险,尤其是感染。最近,利妥昔单抗,一种嵌合抗 CD20 单克隆抗体,可诱导 B 细胞耗竭,已被证明可改善患者的生存率,因为早期使用利妥昔单抗可提高疾病缓解率、长期临床反应和更快地减少泼尼松的用量,与传统的免疫抑制治疗相比,这导致其被批准为天疱疮的一线治疗药物。其他针对 B 细胞受体或下游分子的抗 B 细胞治疗方法目前正在临床试验中进行尝试。更有趣的是,在天疱疮的临床前小鼠模型中进行的一项初步研究表明,使用 Dsg 结构域工程化嵌合自身抗体受体 T 细胞针对自身反应性 B 细胞进行选择性靶向的治疗方法具有未来的治疗应用前景。相反,我们小组的先前研究表明,天疱疮中的 B 细胞耗竭导致 T 细胞功能继发性受损;这可能解释了在利妥昔单抗治疗的患者中观察到的 B 细胞恢复后的长期缓解。同样,我们的数据支持 Dsg 特异性 T 细胞克隆在天疱疮中协调炎症反应和 B 细胞激活中的关键作用。在患者中监测自身反应性 T 细胞实际上可以提供有关这些细胞作用的进一步信息,并将成为指定旨在恢复对 Dsg 丧失免疫耐受的治疗方法的起点。本综述重点介绍天疱疮管理的当前进展、未满足的挑战和未来展望。