Causes of death in hyper-IgE syndrome

J Allergy Clin Immunol. 2007 May;119(5):1234-40. doi: 10.1016/j.jaci.2006.12.666. Epub 2007 Mar 1.


Background: Hyper-IgE syndrome (HIES) is characterized by recurrent pyogenic infections, eczema, increased serum IgE levels, and a variety of connective tissue and skeletal system abnormalities. Little has been published regarding the causes of death in these patients or pathologic findings.

Objective: To identify the cause of death in patients with HIES and to describe pathologic findings in fatal HIES.

Methods: We reviewed the medical records and autopsy slides of 6 patients with HIES with autopsies performed at our institution.

Results: All 6 patients with HIES were women and ranged in age from 24 to 40 years. All patients had a history of cystic lung disease and had pneumonia at the time of death, with Pseudomonas aeruginosa and fungal organisms predominating. Pulmonary fungal vascular invasion with fatal hemorrhage was observed in 3 patients, and metastatic fungal disease to the brain was observed in 2 patients caused by Aspergillus fumigatus and Scedosporium prolificans. Four patients had evidence of renal tubular injury, which was likely from amphotericin B toxicity; 3 patients had glomerulosclerosis; and 1 patient had 2 kidney angiomyolipomas.

Conclusions: Our series highlights the important role Pseudomonas and Aspergillus species play in patients with HIES with cystic lung disease. Intensified antifungal and gram-negative bacterial prophylaxis need evaluation as possible strategies to prevent these infectious complications in patients with cystic lung disease.

Clinical implications: Fungal and Pseudomonas infection of cystic lung disease in HIES may be life threatening, and the proper management and prevention of these infections need continued investigation.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autopsy
  • Brain Diseases / etiology
  • Brain Diseases / pathology
  • Cause of Death
  • Female
  • Humans
  • Job Syndrome / complications*
  • Job Syndrome / mortality*
  • Job Syndrome / pathology*
  • Kidney Diseases / etiology
  • Lung Diseases / etiology
  • Lung Diseases / pathology
  • Mycoses / etiology
  • Mycoses / pathology
  • Pneumonia / etiology*
  • Pneumonia / microbiology
  • Pneumonia / pathology
  • Pseudomonas Infections / etiology
  • Retrospective Studies