Author/Authors :
Kutukculer, Necil Pediatric Immunology Department - Medical Faculty - Ege University - Izmir, Turkey , Akarcan, Sanem Eren Pediatric Immunology Department - Medical Faculty - Ege University - Izmir, Turkey , Karaca, Neslihan Pediatric Immunology Department - Medical Faculty - Ege University - Izmir, Turkey , Aksu, Guzide Pediatric Immunology Department - Medical Faculty - Ege University - Izmir, Turkey , Bozkaya, Halil Interventional Radiology Department - Medical Faculty - Ege University - Izmir, Turkey , Ayik, Mehmet Fatih Cardiovascular Surgery Department - Medical Faculty - Ege University - Izmir, Turkey , Sahan, Yasemin Ozdemir Pediatric Cardiology Department - Medical Faculty - Ege University - Izmir, Turkey , Kilinc, Mehmet Arda Pediatric Intensive Care Unit - Medical Faculty - Ege University - Izmir, Turkey , Dokumcu, Zafer Pediatric Surgery Department - Medical Faculty - Ege University - Izmir, Turkey , Divarci, Emre Pediatric Surgery Department - Medical Faculty - Ege University - Izmir, Turkey , Eraslan, Cenk Radiology Department - Medical Faculty - Ege University - Izmir, Turkey , Alper, Hudaver Pediatric Radiology Department - Medical Faculty - Ege University - Izmir, Turkey
Abstract :
Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specificmicroorganisms,Aspergillusspecies andStaphylococcus aureusbeing the most common ones. A 16-year-old boy with a mutationin CYBB gene coding gp91phoxprotein (X-linked disease) developed a liver abscess due toStaphylococcus aureus. In addition tomedical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomalrecessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phoxprotein) had invasive aspergillosis causingpericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of themutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon aspossible in children with CGD.
Keywords :
Necrotizing Liver Granuloma/Abscess , Constrictive Aspergillosis Pericarditis , Central Nervous System Involvement , Different Remarkable Phenotypes , Different Chronic Granulomatous Disease Genotypes , Chronic granulomatous disease (CGD) , CYBA
