Chronic granulomatous disease: the European experience.
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocy...
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2009
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oai:doaj.org-article:0e663008f09b445ca39a8b97a56d53802021-11-25T06:16:03ZChronic granulomatous disease: the European experience.1932-620310.1371/journal.pone.0005234https://doaj.org/article/0e663008f09b445ca39a8b97a56d53802009-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19381301/?tool=EBIhttps://doaj.org/toc/1932-6203CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation. However, a clear picture of the clinical course of CGD is hampered by its low prevalence (approximately 1:250,000). Therefore, extensive clinical data from 429 European patients were collected and analyzed. Of these patients 351 were males and 78 were females. X-linked (XL) CGD (gp91(phox) deficient) accounted for 67% of the cases, autosomal recessive (AR) inheritance for 33%. AR-CGD was diagnosed later in life, and the mean survival time was significantly better in AR patients (49.6 years) than in XL CGD (37.8 years), suggesting a milder disease course in AR patients. The disease manifested itself most frequently in the lungs (66% of patients), skin (53%), lymph nodes (50%), gastrointestinal tract (48%) and liver (32%). The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%). Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia (<1%) were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. Only 71% of the patients received antibiotic maintenance therapy, and 53% antifungal prophylaxis. 33% were treated with gamma-interferon. 24 patients (6%) had received a stem cell transplantation. The most prominent reason of death was pneumonia and pulmonary abscess (18/84 cases), septicemia (16/84) and brain abscess (4/84). These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients.J Merlijn van den BergElsbeth van KoppenAnders AhlinBernd H BelohradskyEwa BernatowskaLucien CorbeelTeresa EspañolAlain FischerMagdalena Kurenko-DeptuchRichard MouyTheoni PetropoulouJoachim RoeslerReinhard SegerMarie-José StasiaNiels H ValeriusRon S WeeningBaruch WolachDirk RoosTaco W KuijpersPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 4, Iss 4, p e5234 (2009) |
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Medicine R Science Q |
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Medicine R Science Q J Merlijn van den Berg Elsbeth van Koppen Anders Ahlin Bernd H Belohradsky Ewa Bernatowska Lucien Corbeel Teresa Español Alain Fischer Magdalena Kurenko-Deptuch Richard Mouy Theoni Petropoulou Joachim Roesler Reinhard Seger Marie-José Stasia Niels H Valerius Ron S Weening Baruch Wolach Dirk Roos Taco W Kuijpers Chronic granulomatous disease: the European experience. |
| description |
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation. However, a clear picture of the clinical course of CGD is hampered by its low prevalence (approximately 1:250,000). Therefore, extensive clinical data from 429 European patients were collected and analyzed. Of these patients 351 were males and 78 were females. X-linked (XL) CGD (gp91(phox) deficient) accounted for 67% of the cases, autosomal recessive (AR) inheritance for 33%. AR-CGD was diagnosed later in life, and the mean survival time was significantly better in AR patients (49.6 years) than in XL CGD (37.8 years), suggesting a milder disease course in AR patients. The disease manifested itself most frequently in the lungs (66% of patients), skin (53%), lymph nodes (50%), gastrointestinal tract (48%) and liver (32%). The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%). Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia (<1%) were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. Only 71% of the patients received antibiotic maintenance therapy, and 53% antifungal prophylaxis. 33% were treated with gamma-interferon. 24 patients (6%) had received a stem cell transplantation. The most prominent reason of death was pneumonia and pulmonary abscess (18/84 cases), septicemia (16/84) and brain abscess (4/84). These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients. |
| format |
article |
| author |
J Merlijn van den Berg Elsbeth van Koppen Anders Ahlin Bernd H Belohradsky Ewa Bernatowska Lucien Corbeel Teresa Español Alain Fischer Magdalena Kurenko-Deptuch Richard Mouy Theoni Petropoulou Joachim Roesler Reinhard Seger Marie-José Stasia Niels H Valerius Ron S Weening Baruch Wolach Dirk Roos Taco W Kuijpers |
| author_facet |
J Merlijn van den Berg Elsbeth van Koppen Anders Ahlin Bernd H Belohradsky Ewa Bernatowska Lucien Corbeel Teresa Español Alain Fischer Magdalena Kurenko-Deptuch Richard Mouy Theoni Petropoulou Joachim Roesler Reinhard Seger Marie-José Stasia Niels H Valerius Ron S Weening Baruch Wolach Dirk Roos Taco W Kuijpers |
| author_sort |
J Merlijn van den Berg |
| title |
Chronic granulomatous disease: the European experience. |
| title_short |
Chronic granulomatous disease: the European experience. |
| title_full |
Chronic granulomatous disease: the European experience. |
| title_fullStr |
Chronic granulomatous disease: the European experience. |
| title_full_unstemmed |
Chronic granulomatous disease: the European experience. |
| title_sort |
chronic granulomatous disease: the european experience. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2009 |
| url |
https://doaj.org/article/0e663008f09b445ca39a8b97a56d5380 |
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