Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28457527.
- Also identified by DOI 10.1016/j.jpeds.2017.03.051.
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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.
Medical subject headings
- Diabetes Mellitus, Type 1
- Diarrhea
- Forkhead Transcription Factors
- Genetic Diseases, X-Linked
- Immune System Diseases