Ontology highlight
ABSTRACT:
SUBMITTER: Kim YM
PROVIDER: S-EPMC2775850 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Kim Young Mee YM Park Ji Eun JE Kim Jin Young JY Lim Hee Kyung HK Nam Jae Kook JK Cho Moonjae M Shin Kyung-Sue KS
Journal of Korean medical science 20091109 6
Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 10 u ...[more]