Department of Rheumatology and Immunology, Hannover Medical School, Hanover, Germany.
Hannover Medical School, Cluster of Excellence RESIST (EXC 2155), Hanover, Germany.
Cell Mol Immunol. 2021 May;18(5):1122-1140. doi: 10.1038/s41423-020-00626-z. Epub 2021 Apr 1.
In addition to susceptibility to infections, conventional primary immunodeficiency disorders (PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as lymphoproliferative and/or autoimmune disease. Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases, such as arthritis, systemic lupus erythematosus (SLE), and Sjogren's syndrome (SjS). Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore common pathogenic mechanisms. Here, we explore the interconnected pathogenic pathways of autoimmunity and primary immunodeficiency, highlighting the mechanisms breaking the different layers of immune tolerance to self-antigens in selected IEI.
除了易感染之外，传统的原发性免疫缺陷病（PIDs）和先天性免疫缺陷（IEI）还可能导致免疫失调，表现为淋巴组织增生和/或自身免疫性疾病。自身免疫性疾病可以是 PID 的突出表型，通常包括血细胞减少症和风湿性疾病，如关节炎、系统性红斑狼疮（SLE）和干燥综合征（SjS）。对系统性自身免疫性疾病和 PIDs 遗传基础的深入了解表明，它们至少存在部分共同的遗传背景，因此也具有共同的发病机制。在这里，我们探讨了自身免疫和原发性免疫缺陷之间相互关联的发病途径，重点介绍了在选定的 IEI 中破坏针对自身抗原的不同免疫耐受层的机制。
