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Cardiopulmonary arrest in a patient with delayed diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors
  • Tourangeau, Louanne M
  • Doherty, Taylor A
Type
Published Article
Journal
Allergy and Asthma Proceedings
Publisher
Oceanside Publications
Publication Date
Jan 01, 2011
Volume
32
Issue
1
Pages
74–78
Identifiers
DOI: 10.2500/aap.2011.32.3378
PMID: 21262102
Source
Medline
License
Unknown

Abstract

We present the case of a 21-year-old male patient with a history of autoimmune nephritis, peripheral eosinophilia, eosinophilic esophagitis, and enteropathy who developed subacute worsening cardiomyopathy with systolic dysfunction. Diagnostic studies revealed a one-codon deletion in the FoxP3 gene, which led to the diagnosis of immune dysregulation polyendocrinopathy, enteropathy X-linked syndrome. Unfortunately, this patient suffered from cardiopulmonary arrest with resulting anoxic encephalopathy before diagnosis confirmation. Here, we discuss the key issues surrounding the diagnostic and therapeutic approaches to this patient's condition.

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