Persistent Enteropathy in a Toddler with a NovelFOXP3Mutation and Normal FOXP3 Protein Expression

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Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by mutations in the FOXP3 gene. Patients usually present with a clinical triad of intractable diarrhea, diabetes, and eczema. In this patient, FOXP3 protein expression was normal, but FOXP3 Sanger sequencing confirmed the clinical suspicion of IPEX by detecting a previously unreported missense variant. Early recognition of IPEX is important, because hematopoietic stem cell transplantation can be curative.

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