Skip to main content

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

Buy Article:

$39.50 plus tax (Refund Policy)

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.

Keywords: Autoimmune nephritis; FoxP3; IPEX; cardiac arrest; cardiomyopathy; enteropathy; immune dysfunction; immune dysregulation; polyendocrinopathy; systemic autoimmunity; x-linked

Document Type: Research Article

DOI: https://doi.org/10.2500/aap.2011.32.3378

Affiliations: Department of Medicine, Division of Rheumatology, Allergy and Immunology, University of California, San Diego, La Jolla, California, USA

Publication date: 2011-01-01

More about this publication?
  • Allergy and Asthma Proceedings is a peer reviewed publication dedicated to distributing timely scientific research regarding advancements in the knowledge and practice of allergy, asthma and immunology. Its primary readership consists of allergists and pulmonologists.

    The goal of the Proceedings is to publish articles with a predominantly clinical focus which directly impact quality of care for patients with allergic disease and asthma.

    Featured topics include asthma, rhinitis, sinusitis, food allergies, allergic skin diseases, diagnostic techniques, allergens, and treatment modalities. Published material includes peer-reviewed original research, clinical trials and review articles.

    Articles marked "F" offer free full text for personal noncommercial use only.

    The journal is indexed in Thomson Reuters Web of Science and Science Citation Index Expanded, plus the National Library of Medicine's PubMed service.
  • Editorial Board
  • Information for Authors
  • Submit a Paper
  • Information for Advertisers
  • Reprint Requests
  • www.AJRA.com
  • www.AllergyandRhinology.com
  • Ingenta Connect is not responsible for the content or availability of external websites
  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more