Liu Runhua, Li Silin, Yang Wei-Hsiung, Wang Lizhong
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.
Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.
J Syndr. 2013 Jun;1(1). doi: 10.13188/2380-6036.1000001.
In this review, we introduce the IPEX syndrome and its relationship with germline mutations of the FOXP3 gene. We then describe the multiple functional roles of FOXP3 in regulatory T cells and epithelial cells as well as in IPEX syndrome and tumor progression. Potential mechanisms of inactivation and transcriptional regulation are discussed with recent advances. Finally, we point out current issues and a potential FOXP3-mediated therapeutic strategy as well as the reactivation of FOXP3 in patients with IPEX syndrome and cancer.
在本综述中,我们介绍了免疫失调、多内分泌病、肠病、X连锁综合征(IPEX综合征)及其与FOXP3基因种系突变的关系。然后,我们描述了FOXP3在调节性T细胞和上皮细胞中以及在IPEX综合征和肿瘤进展中的多种功能作用。还讨论了FOXP3失活和转录调控的潜在机制以及最近的进展。最后,我们指出了当前存在的问题以及一种潜在的FOXP3介导的治疗策略,以及IPEX综合征和癌症患者中FOXP3的重新激活。