系统性红斑狼疮(SLE)的病理生理学已得到深入研究,但仍未完全定义。目前,已知多种机制有助于SLE的发展。这些包括凋亡碎片的清除不足,自身核酸抗原的异常呈递,宽容的丧失,以及T细胞和B细胞的不适当激活。遗传,荷尔蒙,众所周知,环境影响也起作用。儿童狼疮的研究,推测其中有更大的遗传影响,导致了适用于整个SLE病理生理学的新理解。特别是,与I型干扰素过量产生相关的遗传性疾病的表征已经阐明了在SLE中诱导干扰素的特定机制。在这次审查中,我们讨论了儿童狼疮的几种单基因形式,并回顾了从儿童SLE的细胞因子和自身抗体谱分析中获得的最新见解。
The pathophysiology of systemic lupus erythematosus (SLE) has been intensely studied but remains incompletely defined. Currently, multiple mechanisms are known to contribute to the development of SLE. These include inadequate clearance of apoptotic debris, aberrant presentation of self nucleic antigens, loss of tolerance, and inappropriate activation of T and B cells. Genetic, hormonal, and environmental influences are also known to play a role. The
study of lupus in children, in whom there is presumed to be greater genetic influence, has led to new understandings that are applicable to SLE pathophysiology as a whole. In particular, characterization of inherited disorders associated with excessive type I interferon production has elucidated specific mechanisms by which interferon is induced in SLE. In this review, we discuss several monogenic forms of lupus presenting in childhood and also review recent insights gained from cytokine and autoantibody profiling of pediatric SLE.