Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes
Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) de...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2017/2676403 |
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| author | Sanem Eren Akarcan Neslihan Karaca Guzide Aksu Halil Bozkaya Mehmet Fatih Ayik Yasemin Ozdemir Sahan Mehmet Arda Kilinc Zafer Dokumcu Cenk Eraslan Emre Divarci Hudaver Alper Necil Kutukculer |
| author_facet | Sanem Eren Akarcan Neslihan Karaca Guzide Aksu Halil Bozkaya Mehmet Fatih Ayik Yasemin Ozdemir Sahan Mehmet Arda Kilinc Zafer Dokumcu Cenk Eraslan Emre Divarci Hudaver Alper Necil Kutukculer |
| author_sort | Sanem Eren Akarcan |
| collection | DOAJ |
| description | Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD. |
| format | Article |
| id | doaj-art-24d93c2176d04286a3a9f9ed8b080c6c |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-24d93c2176d04286a3a9f9ed8b080c6c2025-02-03T05:46:39ZengWileyCase Reports in Immunology2090-66092090-66172017-01-01201710.1155/2017/26764032676403Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease GenotypesSanem Eren Akarcan0Neslihan Karaca1Guzide Aksu2Halil Bozkaya3Mehmet Fatih Ayik4Yasemin Ozdemir Sahan5Mehmet Arda Kilinc6Zafer Dokumcu7Cenk Eraslan8Emre Divarci9Hudaver Alper10Necil Kutukculer11Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Immunology Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Immunology Department, Medical Faculty, Ege University, Izmir, TurkeyInterventional Radiology Department, Medical Faculty, Ege University, Izmir, TurkeyCardiovascular Surgery Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Cardiology Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Intensive Care Unit, Medical Faculty, Ege University, Izmir, TurkeyPediatric Surgery Department, Medical Faculty, Ege University, Izmir, TurkeyRadiology Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Surgery Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Radiology Department, Medical Faculty, Ege University, Izmir, TurkeyPediatric Immunology Department, Medical Faculty, Ege University, Izmir, TurkeyChronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.http://dx.doi.org/10.1155/2017/2676403 |
| spellingShingle | Sanem Eren Akarcan Neslihan Karaca Guzide Aksu Halil Bozkaya Mehmet Fatih Ayik Yasemin Ozdemir Sahan Mehmet Arda Kilinc Zafer Dokumcu Cenk Eraslan Emre Divarci Hudaver Alper Necil Kutukculer Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes Case Reports in Immunology |
| title | Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes |
| title_full | Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes |
| title_fullStr | Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes |
| title_full_unstemmed | Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes |
| title_short | Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes |
| title_sort | necrotizing liver granuloma abscess and constrictive aspergillosis pericarditis with central nervous system involvement different remarkable phenotypes in different chronic granulomatous disease genotypes |
| url | http://dx.doi.org/10.1155/2017/2676403 |
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