TLDR Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
This case report described an infant with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, who exhibited symptoms including vitiligo, alopecia, and chronic diarrhea. Despite awaiting a stem cell transplant, the patient experienced multiple episodes of sepsis and passed away at 10 months old. The report emphasized the importance of recognizing these symptoms early, as hematopoietic stem cell transplantation is the only cure for IPEX syndrome.
24 citations
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