A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa
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.
K W Chan,
D M Le Roux,
Y L Lau,
B S Eley,
Chronic granulomatous disease; Primary immunodeficiency; Aspergillosis
Cite this article
South African Medical Journal 2011;101(10):768-769.
Date submitted: 2011-03-07
Date published: 2011-09-27
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