Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association
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...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
|
| Series: | Case Reports in Pulmonology |
| Online Access: | http://dx.doi.org/10.1155/2013/874197 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850225996198838272 |
|---|---|
| author | Maxime Maignan Colin Verdant Guillaume F. Bouvet Michael Van Spall Yves Berthiaume |
| author_facet | Maxime Maignan Colin Verdant Guillaume F. Bouvet Michael Van Spall Yves Berthiaume |
| author_sort | Maxime Maignan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-52dd3050698d4256804d16144d61d57e |
| institution | OA Journals |
| issn | 2090-6846 2090-6854 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pulmonology |
| spelling | doaj-art-52dd3050698d4256804d16144d61d57e2025-08-20T02:05:12ZengWileyCase Reports in Pulmonology2090-68462090-68542013-01-01201310.1155/2013/874197874197Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly AssociationMaxime Maignan0Colin Verdant1Guillaume F. Bouvet2Michael Van Spall3Yves Berthiaume4Institut de Recherches Cliniques de Montréal, Université de Montréal, Montréal, QC, H2W 1R7, CanadaDépartement de Médecine, Université de Montréal, Montréal, QC, H3T 1J4, CanadaInstitut de Recherches Cliniques de Montréal, Université de Montréal, Montréal, QC, H2W 1R7, CanadaCentre de Recherche du Centre hospitalier de l’Université de Montréal, Montréal, QC, H2W 1T8, CanadaInstitut de Recherches Cliniques de Montréal, Université de Montréal, Montréal, QC, H2W 1R7, CanadaBackground. 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.http://dx.doi.org/10.1155/2013/874197 |
| spellingShingle | Maxime Maignan Colin Verdant Guillaume F. Bouvet Michael Van Spall Yves Berthiaume Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association Case Reports in Pulmonology |
| title | Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association |
| title_full | Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association |
| title_fullStr | Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association |
| title_full_unstemmed | Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association |
| title_short | Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association |
| title_sort | undiagnosed chronic granulomatous disease burkholderia cepacia complex pneumonia and acquired hemophagocytic lymphohistiocytosis a deadly association |
| url | http://dx.doi.org/10.1155/2013/874197 |
| work_keys_str_mv | AT maximemaignan undiagnosedchronicgranulomatousdiseaseburkholderiacepaciacomplexpneumoniaandacquiredhemophagocyticlymphohistiocytosisadeadlyassociation AT colinverdant undiagnosedchronicgranulomatousdiseaseburkholderiacepaciacomplexpneumoniaandacquiredhemophagocyticlymphohistiocytosisadeadlyassociation AT guillaumefbouvet undiagnosedchronicgranulomatousdiseaseburkholderiacepaciacomplexpneumoniaandacquiredhemophagocyticlymphohistiocytosisadeadlyassociation AT michaelvanspall undiagnosedchronicgranulomatousdiseaseburkholderiacepaciacomplexpneumoniaandacquiredhemophagocyticlymphohistiocytosisadeadlyassociation AT yvesberthiaume undiagnosedchronicgranulomatousdiseaseburkholderiacepaciacomplexpneumoniaandacquiredhemophagocyticlymphohistiocytosisadeadlyassociation |