Functional maturation of regulatory T cells during child growth and their disorders

本研究旨在通过先天性Treg细胞缺乏症（congenital deficiency of Treg cells， IPEX）的病原学检测，阐明人类调节性T （Treg）细胞的功能成熟过程。我们开发了一种简便的流式细胞术检测IPEX患者的方法，并在日本发现了一些新的IPEX病例。通过对IPEX患者、接受骨髓移植的IPEX病例、携带者、新生儿和健康成人的分析，可以部分阐明IPEX基因的产物FOXP3在人类Treg细胞的发育和分化中起着至关重要的作用。

This study was intended to elucidate the functional maturation process of human regulatory T (Treg) cells through the pathogenic examination of congenital deficiency of Treg cells (IPEX). We developed the simple and easy method by flow cytometry for detection of IPEX patients, resulting in identification of some new IPEX cases in Japan. Based on the analyses of IPEX patients, the IPEX case undergoing bone marrow transplantation, carriers, newborns and healthy adults, it could partially be clarified that FOXP3, the product of the gene responsible for IPEX, plays a crucial role in development and differentiation of Treg cells in humans.