Kuehn Julia, Schleifenbaum Susanne, Hendling Michaela, Siebenhandl Sandra, Krainer Julie, Fuehner Sabrina, Hellige Antje, Park Carolin, Hinze Claas, Wittkowski Helmut, Holzinger Dirk, Thurner Lorenz, Weinhäusel Andreas, Foell Dirk, Kessel Christoph
Pediatric Rheumatology and Immunology, University Children's Hospital, Muenster, Germany.
Competence Unit Molecular Diagnostics, Center for Health and Bioresources, Austrian Institute of Technology, Vienna, Austria.
Arthritis Rheumatol. 2023 May;75(5):826-841. doi: 10.1002/art.42409. Epub 2023 Mar 17.
Systemic juvenile idiopathic arthritis (JIA) features characteristics of autoinflammation and autoimmunity, culminating in chronic arthritis. In this study, we hypothesized that aberrant or incomplete polarization of T helper cells contributes to disease pathology.
Cells or serum samples were obtained from healthy controls (n = 72) and systemic JIA patients (n = 171). Isolated naive T helper cells were cultured under Th1, Th17, and T follicular helper (Tfh) or T peripheral helper (Tph)-polarizing conditions and were partly cocultured with allogenic memory B cells. Cell samples were then analyzed for surface marker, transcription factor, and cytokine expression, as well as plasmablast generation. Serum samples were subjected to multiplexed bead and self-antigen arrays and enzyme-linked immunosorbent assays, and all data were compared to retrospective RNA profiling analyses.
Differentiation of systemic JIA-naive T helper cells toward Th1 cells resulted in low expression levels of interferon-γ (IFNγ) and eomesodermin, which was associated in part with disease duration. In contrast, developing Th1 cells in patients with systemic JIA were found to produce elevated levels of interleukin-21 (IL-21), which negatively correlated with cellular expression of IFNγ and eomesodermin. In both in vitro and ex vivo analyses, IL-21 together with programmed cell death 1 (PD-1), inducible T cell costimulator (ICOS), and CXCR5 expression induced naive T helper cells from systemic JIA patients to polarize toward a Tfh/Tph cell phenotype. Retrospective analysis of whole-blood RNA-sequencing data demonstrated that Bcl-6, a master transcription factor in Tfh/Tph cell differentiation, was overexpressed specifically in patients with systemic JIA. Naive T helper cells from systemic JIA patients which were stimulated in vitro promoted B cellular plasmablast generation, and self-antigen array data indicated that IgG reactivity profiles of patients with systemic JIA differed from those of healthy controls.
In the pathogenesis of systemic JIA, skewing of naive T helper cell differentiation toward a Tfh/Tph cell phenotype may represent an echo of autoimmunity, which may indicate the mechanisms driving progression toward chronic destructive arthritis.
全身型幼年特发性关节炎(JIA)具有自身炎症和自身免疫特征,最终导致慢性关节炎。在本研究中,我们假设辅助性T细胞的异常极化或不完全极化有助于疾病病理过程。
从健康对照者(n = 72)和全身型JIA患者(n = 171)获取细胞或血清样本。分离出的初始辅助性T细胞在Th1、Th17和滤泡辅助性T细胞(Tfh)或外周辅助性T细胞(Tph)极化条件下培养,并部分与同种异体记忆B细胞共培养。然后分析细胞样本的表面标志物、转录因子和细胞因子表达以及浆母细胞生成情况。血清样本进行多重微珠和自身抗原芯片检测以及酶联免疫吸附测定,所有数据与回顾性RNA谱分析进行比较。
全身型JIA初始辅助性T细胞向Th1细胞分化导致干扰素-γ(IFNγ)和胚外中胚层决定蛋白表达水平较低,这部分与疾病持续时间相关。相比之下,发现全身型JIA患者中正在发育的Th1细胞产生的白细胞介素-21(IL-21)水平升高,其与IFNγ和胚外中胚层决定蛋白的细胞表达呈负相关。在体外和体内分析中,IL-21与程序性细胞死亡蛋白1(PD-1)、诱导性T细胞共刺激分子(ICOS)以及CXCR5表达一起诱导全身型JIA患者的初始辅助性T细胞向Tfh/Tph细胞表型极化。对全血RNA测序数据的回顾性分析表明,Tfh/Tph细胞分化中的主要转录因子Bcl-6在全身型JIA患者中特异性过表达。体外刺激的全身型JIA患者的初始辅助性T细胞促进B细胞浆母细胞生成,自身抗原芯片数据表明全身型JIA患者的IgG反应谱与健康对照者不同。
在全身型JIA的发病机制中,初始辅助性T细胞分化偏向Tfh/Tph细胞表型可能代表自身免疫的一种表现,这可能提示了向慢性破坏性关节炎进展的机制。