Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
Allergy, Asthma & Immunology Research
;
: 366-369, 2014.
Article
in English
| WPRIM
| ID: wpr-132492
ABSTRACT
Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oxidoreductases
/
Phagocytes
/
Skin
/
Mutation, Missense
/
Granuloma
/
Granulomatous Disease, Chronic
/
Hypergammaglobulinemia
/
Anemia
/
Leukocytosis
/
Lung
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Allergy, Asthma & Immunology Research
Year:
2014
Type:
Article
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