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SAMJ: South African Medical Journal

Print version ISSN 0256-9574

Abstract

NAIDOO, R et al. A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa. SAMJ, S. Afr. med. j. [online]. 2011, vol.101, n.10, pp. 768-769. ISSN 0256-9574.

A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.

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