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

doi:10.12372/jcp.2023.22e0712

Abstract

Abstract:

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 FOXP3 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.

Key words: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, diabetes, diarrh ea, eczema, hematopoietic stem cell transplantation

XU Pu, QIAN Xiaowen, ZHAI Xiaowen, WANG Laishuan. Successful treatment of a case of premature IPEX syndrome with umbilical cord blood stem cell transplantation and literature review[J].Journal of Clinical Pediatrics, 2023, 41(2): 140-145.

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References 40

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

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