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Undiagnosed Chronic Granulomatous Disease,Burkholderia cepacia complexPneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association
- Source :
- Case Reports in Pulmonology, Vol 2013 (2013), Case Reports in Pulmonology
- Publication Year :
- 2013
- Publisher :
- Hindawi Limited, 2013.
-
Abstract
- Background. Chronic granulomatous disease is a rare inherited disorder of the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. The clinical course of the disease is marked by recurrent infections, includingBurkholderia cepacia complexinfection.Case Report. Here we report the case of a 21-year-old male hospitalized for aBurkholderia cepacia complexpneumonia. Despite the broad spectrum antibiotic treatment, fever continued and patient’s condition worsened. Anemia and thrombocytopenia developed together with hypofibrinogenemia. The patient died of multiple organ dysfunction 17 days after his admission. Autopsy revealed hemophagocytosis, suggesting the diagnosis of acquired hemophagocytic lymphohistiocytosis. DNA analysis showed a deletion in the p47phox gene, confirming the diagnosis of autosomal recessive chronic granulomatous disease.Discussion. In addition to chronic granulomatous disease, recent findings have demonstrated thatBurkholderia cepacia complexcan decrease activity of the NADPH oxidase. Interestingly, hemophagocytic lymphohistiocytosis is characterized by an impaired function of the T-cell mediated inflammation which is partly regulated by the NADPH oxidase. Physicians should therefore pay particular attention to this deadly association.
- Subjects :
- lcsh:RC705-779
Pulmonary and Respiratory Medicine
Hemophagocytic lymphohistiocytosis
NADPH oxidase
biology
business.industry
Organ dysfunction
Case Report
lcsh:Diseases of the respiratory system
Disease
medicine.disease
biology.organism_classification
Burkholderia cepacia complex
Pneumonia
Chronic granulomatous disease
Immunology
biology.protein
medicine
medicine.symptom
Hemophagocytosis
business
Subjects
Details
- ISSN :
- 20906854 and 20906846
- Volume :
- 2013
- Database :
- OpenAIRE
- Journal :
- Case Reports in Pulmonology
- Accession number :
- edsair.doi.dedup.....852dafe160bd267e2e56eeffad82a4e3