Article
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.
Immunological investigations - 1 Jan 2014
Ko Sun Hi, Rhim Jung Woo, Shin Kyung Sue, Hahn Youn Soo, Lee So Young, Kim Joong Gon
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare hereditary disorder that is characterized by a greatly increased susceptibility to life-threatening bacterial and fungal infections. CGD is caused by mutations in any one of the genes encoding subunits of phagocyte NADPH oxidase. X-linked CGD, more than half of all CGD cases, is caused by mutations in CYBB gene encoding gp91-phox subunit. We identified the mutations...
Topics
- DNA Mutational Analysis
- Family
- Female
- Granulomatous Disease, Chronic
- Humans
- Korea
- Male
- Membrane Glycoproteins
- Mutation
- NADPH Oxidase 2
- NADPH Oxidases
- Phagocytes