单基因狼疮--从基因到靶向治疗

IF 2.4 Q1 PEDIATRICS
Katharina Menzel, Kateryna Novotna, Nivya Jeyakumar, Christine Wolf, Min Ae Lee-Kirsch
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引用次数: 0

摘要

系统性红斑狼疮(SLE)是一种典型的自身免疫性疾病,其特点是对核抗原失去耐受性。自身抗体的形成和免疫复合物的沉积会引发炎性组织损伤,可影响身体的任何部位。在大多数情况下,系统性红斑狼疮是一种涉及多种遗传和环境因素的复杂疾病。尽管系统性红斑狼疮的治疗取得了进展,但目前尚无根治的方法,患者需要服用具有明显副作用的免疫抑制剂。罕见的单基因型系统性红斑狼疮的发现,为人们深入了解系统性自身免疫的分子机制提供了宝贵的资料。利用这些知识将有助于开发更精细、更可靠的生物标志物,用于诊断、治疗监测和结果预测,并指导新型靶向疗法的开发,这些疗法不仅适用于单基因狼疮,也适用于复杂型系统性红斑狼疮。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Monogenic lupus – from gene to targeted therapy
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by loss of tolerance to nuclear antigens. The formation of autoantibodies and the deposition of immune complexes trigger inflammatory tissue damage that can affect any part of the body. In most cases, SLE is a complex disease involving multiple genetic and environmental factors. Despite advances in the treatment of SLE, there is currently no cure for SLE and patients are treated with immunosuppressive drugs with significant side effects. The elucidation of rare monogenic forms of SLE has provided invaluable insights into the molecular mechanisms underlying systemic autoimmunity. Harnessing this knowledge will facilitate the development of more refined and reliable biomarker profiles for diagnosis, therapeutic monitoring, and outcome prediction, and guide the development of novel targeted therapies not only for monogenic lupus, but also for complex SLE.
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