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• W2568881878 abstract "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 <mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M1><mml:mi mathvariant=normal>g</mml:mi><mml:mi mathvariant=normal>p</mml:mi><mml:msup><mml:mrow><mml:mn mathvariant=normal>91</mml:mn></mml:mrow><mml:mrow><mml:mi mathvariant=normal>p</mml:mi><mml:mi mathvariant=normal>h</mml:mi><mml:mi mathvariant=normal>o</mml:mi><mml:mi mathvariant=normal>x</mml:mi></mml:mrow></mml:msup></mml:math> 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 <mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M2><mml:mi mathvariant=normal>p</mml:mi><mml:msup><mml:mrow><mml:mn mathvariant=normal>22</mml:mn></mml:mrow><mml:mrow><mml:mi mathvariant=normal>p</mml:mi><mml:mi mathvariant=normal>h</mml:mi><mml:mi mathvariant=normal>o</mml:mi><mml:mi mathvariant=normal>x</mml:mi></mml:mrow></mml:msup></mml:math> 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." @default.
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• W2568881878 date "2017-01-01" @default.
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• W2568881878 title "Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes" @default.
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• W2568881878 doi "https://doi.org/10.1155/2017/2676403" @default.
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