Causes of death in hyper-IgE syndrome.
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.


CONCLUSIONS
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.
Freeman
Alexandra F
AF
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA.
Kleiner
David E
DE
Nadiminti
Hari
H
Davis
Joie
J
Quezado
Martha
M
Anderson
Victoria
V
Puck
Jennifer M
JM
Holland
Steven M
SM
D000328:Adult; D001344:Autopsy; D001927:Brain Diseases / Q000209:etiology / Q000473:pathology; D002423:Cause of Death; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000150:complications* / Q000401:mortality* / Q000473:pathology*; D007674:Kidney Diseases / Q000209:etiology; D008171:Lung Diseases / Q000209:etiology / Q000473:pathology; D009181:Mycoses / Q000209:etiology / Q000473:pathology; D011014:Pneumonia / Q000209:etiology* / Q000382:microbiology / Q000473:pathology; D011552:Pseudomonas Infections / Q000209:etiology; D012189:Retrospective Studies