Original articles

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

R Naidoo, N Jordaan, K W Chan, D M Le Roux, S Pienaar, J Nuttall, Y L Lau, B S 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.

Authors' affiliations

R Naidoo,

N Jordaan,

K W Chan,

D M Le Roux,

S Pienaar,

J Nuttall,

Y L Lau,

B S Eley,

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Keywords

Chronic granulomatous disease; Primary immunodeficiency; Aspergillosis

Cite this article

South African Medical Journal 2011;101(10):768-769.

Article History

Date submitted: 2011-03-07
Date published: 2011-09-27

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