Menzel Katharina, Novotna Kateryna, Jeyakumar Nivya, Wolf Christine, Lee-Kirsch Min Ae
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, 01307, Germany.
University Center for Rare Diseases, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, 01307, Germany.
Mol Cell Pediatr. 2024 Sep 12;11(1):8. doi: 10.1186/s40348-024-00181-x.
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.
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，其特征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引发炎症性组织损伤，可影响身体的任何部位。在大多数情况下，SLE是一种涉及多种遗传和环境因素的复杂疾病。尽管SLE的治疗取得了进展，但目前尚无治愈方法，患者需使用有显著副作用的免疫抑制药物进行治疗。对罕见单基因形式SLE的阐明为系统性自身免疫的分子机制提供了宝贵的见解。利用这些知识将有助于开发更精细、可靠的生物标志物谱，用于诊断、治疗监测和预后预测，并指导不仅针对单基因狼疮，也针对复杂SLE的新型靶向疗法的开发。
