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.
Artículo
en Inglés
| WPRIM
| ID: wpr-132489
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Oxidorreductasas
/
Fagocitos
/
Piel
/
Mutación Missense
/
Granuloma
/
Enfermedad Granulomatosa Crónica
/
Hipergammaglobulinemia
/
Anemia
/
Leucocitosis
/
Pulmón
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Allergy, Asthma & Immunology Research
Año:
2014
Tipo del documento:
Artículo
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