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...

Full description

Saved in:
Bibliographic Details
Published in:Case reports in immunology 2017-01, Vol.2017 (2017), p.1-9
Main Authors: Divarci, Emre, Alper, Hudaver, Kutukculer, Necil, Dokumcu, Zafer, Kilinc, Mehmet Arda, Ozdemir Sahan, Yasemin, Ayik, Mehmet Fatih, Bozkaya, Halil, Aksu, Guzide, Karaca, Neslihan, Akarcan, Sanem, Eraslan, Cenk
Format: Article
Language:English
Subjects:
Case Report
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2090-6609
2090-6617
DOI:10.1155/2017/2676403