Article
[Prenatal diagnosis and novel mutation in X-linked chronic granulomatous disease].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Apr 2011
Pérez-Aradas V, Mancebo E, Talayero P, González-Granado L I, Allende L M
Abstract excerpt
BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency caused by the alteration of the enzyme complex NADPH oxidase, which affects the phagocytic function. CGD patients are susceptible to recurrent infections mainly caused by bacteria and/or fungi. METHODS: We studied a 6 year-old boy with suspicion of CGD. The diagnosis was confirmed based on the functional study of NADPH oxidase....
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