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.
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 Btoxicity; 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 Pseudomonasinfection of cystic lung disease in HIES may be life threatening, and the proper management and prevention of these infections need continued investigation.
Authors: Natalia I Dmitrieva; Avram D Walts; Dai Phuong Nguyen; Alex Grubb; Xue Zhang; Xujing Wang; Xianfeng Ping; Hui Jin; Zhen Yu; Zu-Xi Yu; Dan Yang; Robin Schwartzbeck; Clifton L Dalgard; Beth A Kozel; Mark D Levin; Russell H Knutsen; Delong Liu; Joshua D Milner; Diego B López; Michael P O'Connell; Chyi-Chia Richard Lee; Ian A Myles; Amy P Hsu; Alexandra F Freeman; Steven M Holland; Guibin Chen; Manfred Boehm Journal: J Clin Invest Date: 2020-08-03 Impact factor: 14.808
Authors: Alexandra F Freeman; Ellen D Renner; Carolyn Henderson; Anne Langenbeck; Kenneth N Olivier; Amy P Hsu; Beate Hagl; Annette Boos; Joie Davis; Beatriz E Marciano; Lisa Boris; Pamela Welch; Julie Sawalle-Belohradsky; Bernd H Belohradsky; King F Kwong; Steven M Holland Journal: J Clin Immunol Date: 2013-04-13 Impact factor: 8.317