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South African Medical Journal

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A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa

R Naidoo, N Jordaan, KW Chan, DM le Roux, S Pienaar, J Nuttall, YL Lau, BS Eley

Abstract


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.



AJOL African Journals Online