Articles with "ncf2 mutation" as a keyword



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Novel NCF2 Mutation Causing Chronic Granulomatous Disease

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Published in 2020 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-020-00820-8

Abstract: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in the NADPH oxidase complex. Mutations in NCF2 encoding the cytosolic factor p67phox result in autosomal recessive CGD. We describe three patients… read more here.

Keywords: mutation; granulomatous disease; chronic granulomatous; ncf2 mutation ... See more keywords