脐血干细胞移植成功治疗早发IPEX综合征1例报告并文献复习

Successful treatment of a case of premature IPEX syndrome with umbilical cord blood stem cell transplantation and literature review

X连锁多内分泌腺病肠病伴免疫失调综合征(IPEX)是一种由FOXP3基因变异引起的原发性免疫缺陷病,典型表现包括严重肠病、1型糖尿病和湿疹三联征。患儿,男,以糖尿病、顽固性腹泻、湿疹、反复感染起病,经遗传学检测确诊为FOXP3基因变异引起的IPEX综合征,最终经脐血干细胞移植治疗,患儿自身免疫症状得到改善。对早发糖尿病、顽固性腹泻及湿疹婴幼儿,应考虑IPEX综合征可能并进行遗传学检测,早期造血干细胞移植可阻止大多数患儿的疾病进展和并发症的发生,提高患儿生存率。

The X-linked polyendocrine adenopathy enteropathy with immune disorder syndrome(IPEX) is a primary immunodeficiency disease caused by a variant of the FOXP3 gene, typically presenting with a triad of severe enteropathy, type 1 diabetes mellitus and eczema. The child, a male, started with diabetes, intractable diarrhea, eczema,and recurrent infections, and was diagnosed with IPEX syndrome caused by FOXP 3 gene variant by genetic testing,and was eventually treated with umbilical cord blood stem cell transplantation, which improved the child’s autoimmune symptoms. In infants with early onset diabetes, intractable diarrhea and eczema, IPEX syndrome should be considered,and genetic testing should be performed. Early hematopoietic stem cell transplantation can prevent disease progression and complications in most children and improve their survival rate.