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,Aspergillusspecies andStaphylococcus aureusbeing the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phoxprotein (X-linked disease) developed a liver abscess due toStaphylococcus 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 p22phoxprotein) 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.
Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, Turkey.
Sanem
0000-0002-2170-765X
S
Eren Akarcan
Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, Turkey.
Neslihan
0000-0002-2202-7082
N
Karaca
Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, Turkey.
Guzide
G
Aksu
Interventional Radiology Department, Medical Faculty, Ege University, Izmir, Turkey.
Halil
H
Bozkaya
Cardiovascular Surgery Department, Medical Faculty, Ege University, Izmir, Turkey.
Mehmet Fatih
MF
Ayik
Pediatric Cardiology Department, Medical Faculty, Ege University, Izmir, Turkey.
Yasemin
Y
Ozdemir Sahan
Pediatric Intensive Care Unit, Medical Faculty, Ege University, Izmir, Turkey.
Mehmet Arda
MA
Kilinc
Pediatric Surgery Department, Medical Faculty, Ege University, Izmir, Turkey.
Zafer
Z
Dokumcu
Radiology Department, Medical Faculty, Ege University, Izmir, Turkey.
Cenk
C
Eraslan
Pediatric Surgery Department, Medical Faculty, Ege University, Izmir, Turkey.
Emre
E
Divarci
Pediatric Radiology Department, Medical Faculty, Ege University, Izmir, Turkey.
Hudaver
H
Alper
Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, Turkey.
Necil
0000-0002-9196-3819
N
Kutukculer