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Case Reports in Pulmonology
Volume 2013, Article ID 874197, 5 pages
Case Report

Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association

1Institut de Recherches Cliniques de Montréal, Université de Montréal, Montréal, QC, Canada H2W 1R7
2Département de Médecine, Université de Montréal, Montréal, QC, Canada H3T 1J4
3Département de Médecine, Hôpital Sacré Cœur, Université de Montréal, Montréal, QC, Canada H4J 1C5
4Centre de Recherche du Centre hospitalier de l’Université de Montréal, Montréal, QC, Canada H2W 1T8
5Service de Pneumologie, Centre Hospitalier de l’Université de Montréal, Montréal, QC, Canada H2W 1T8

Received 28 June 2013; Accepted 24 July 2013

Academic Editors: T. Peros-Golubicic and R. Vender

Copyright © 2013 Maxime Maignan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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, including Burkholderia cepacia complex infection. Case Report. Here we report the case of a 21-year-old male hospitalized for a Burkholderia cepacia complex pneumonia. 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 that Burkholderia cepacia complex can 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.