Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Clin Immunol. 2010 Aug;136(2):162-9. doi: 10.1016/j.clim.2010.04.004. Epub 2010 May 8.
IPEX (Immunodysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is a rare, recessive disorder in patients with mutations in the foxp3 gene, the normal expression of which is required for the generation of functional regulatory T-cells. Scurfy mice also bear a mutation in the foxp3, and like IPEX patients, spontaneously develop multi-organ inflammation. As reviewed herein, breeding immune response genes into Scurfy mice has provided useful insight into how the inflammatory T-cell response is regulated in the absence of regulatory T-cells and post regulatory T-cell checkpoint. Of particular interest are those that preferentially affect the inflammatory T-cell response in an "apparent" organ-specific manner, implying that specific mechanisms of control exist for individual organs during multi-organ inflammation.
IPEX（免疫失调、多内分泌腺病、肠病、X 连锁）综合征是一种罕见的、隐性遗传疾病，患者存在 foxp3 基因突变，该基因的正常表达对于功能性调节性 T 细胞的产生是必需的。Scurfy 小鼠也携带 foxp3 基因突变，并且与 IPEX 患者一样，会自发地发生多器官炎症。正如本文所综述的，将免疫反应基因引入 Scurfy 小鼠提供了有用的见解，了解在没有调节性 T 细胞和调节性 T 细胞检查点后，炎症性 T 细胞反应是如何被调节的。特别有趣的是那些以“明显”的器官特异性方式优先影响炎症性 T 细胞反应的基因，这意味着在多器官炎症期间，特定器官存在特定的控制机制。
