X-linked Chronic Granulomatous Disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

Chronic Granulomatous Disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16 year old female with X-linked CGD. The patient presented with community-acquired...

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Autores principales: Lewis, Eric M, Singla, Manav, Sergeant, Susan, Koty, Patrick P., McPhail, Linda C.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2599929/
https://ncbi.nlm.nih.gov/pubmed/18774749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2008.07.022
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