目的 分析X连锁多内分泌腺病肠病伴免疫失调（IPEX）综合征的临床及遗传学特征。方法 回顾分析1例 IPEX综合征患儿的临床资料和基因检测结果，并复习相关文献。结果 男性患儿14月龄时以免疫性血小板减少症起病， 反复之后呼吸道感染继发免疫性血小板减少和肝炎，伴脾肿大和淋巴结病。基因检测发现患儿FOXP 3基因存在半合子变 异，767号核苷酸由胸腺嘧啶T变为胞嘧啶C（c. 767 T>C），导致第256号氨基酸由甲硫氨酸变为苏氨酸（p.M 256 T）。家系 验证，父亲该位点无变异，母亲该位点杂合变异。予雷帕霉素治疗1个月后，患儿血小板水平明显回升，肝功能降至正常水 平，但最终于3个月后因重症感染而死亡。结论 IPEX综合征临床表现为多器官的自身免疫性疾病，死亡率高，免疫抑制 治疗控制病情后桥接异基因造血干细胞移植是目前最佳的治疗方案。

Objective To analyze the clinical and genetic characteristics of immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome. Methods The clinical data and genetic test results of 1 patient with IPEX syndrome were analyzed, and related literatures were reviewed. Results The boy developed immune thrombocytopenia at 14 months of age. He had recurrent respiratory tract infection with secondary immune thrombocytopenia and hepatitis, accompanied by splenomegaly and lymphadenopathy. Genetic test found that the child had a hemizygotic variation in FOXP 3 gene, and nucleotide 767 changed from thymine T to cytosine C (c. 767 T >C), resulting in amino acid 256 changed from methionine to threonine (p.M 256 T). Pedigree verification showed that there was no variation at this locus in the father and a heterozygous variation at this locus was found in the mother. After one month of rapamycin treatment, the platelet level rose significantly and the liver function returned to normal. However, the patient died 3 months later due to severe infection. Conclusions IPEX syndrome is a multi-organ autoimmune disease with high mortality. Immunosuppressive therapy followed by allogeneic hematopoietic stem cell transplantation is the current optimal treatment.