X连锁多内分泌腺病肠病伴免疫失调综合征及其调节性T细胞异常的研究进展

IPEX and the abnormalities of regulatory T cells

X连锁多内分泌腺病肠病伴免疫失调综合征(IPEX)是一种罕见的原发性免疫缺陷病,以多器官自身免疫为特点,由FOXP3基因突变引起。该基因突变可致调节性T细胞发育、分化障碍和功能异常。调节性T细胞是具有免疫抑制功能的T细胞亚群,参与维持自身免疫稳态,其发育或功能异常可导致机体免疫稳态被打破而发生自身免疫。本文对IPEX临床特点、治疗和调节性T细胞的功能研究进展及与IPEX的关系进行阐述。

Immune dysregulation,polyendocrinopathy,enteropathy,X-linked syndrome（IPEX）is a rare primary immunodeficiency disease characterized by multiple organ autoimmunity,such as autoimmune enteropathy and T1 DM.It is confirmed that IPEX is caused by mutations in the forkhead box protein 3（FOXP3）gene.FOXP3 is critical for the development and function of regulatory T cells.Regulatory T cells is an immunoregulatory T cell subset involved in the maintenance of immune homeostasis.Regulatory T cells developmental deficiency or dyfunction is a hallmark of IPEX.In this review,the clinical characteristics and therapy of IPEX were described,and the impact of heritable mutations on the function of regulatory T cells was highlighted.