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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。
X-linked polyendocrine gut disease Enteropathy with immunodystrophy syndrome (IPEX) is a rare primary immunodeficiency disorder characterized by multiple organ autoimmunity caused by mutations in the FOXP3 gene. This gene mutation can cause regulatory T cell development, differentiation disorders and dysfunction. Regulatory T cells are immunosuppressive T cell subsets, involved in maintaining autoimmune homeostasis, its development or dysfunction can lead to the body’s immune homeostasis is broken and autoimmunity. This article describes the clinical features of IPEX, the functional studies of therapeutic and regulatory T cells, and their relationship to IPEX.