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Case Reports
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, and B S Eley.
- Paediatric Infectious Diseases Unit, Red Cross War Memorial Childrens's Hospital, Cape Town, South Africa. Reene.Naidoo@uct.ac.za
- S. Afr. Med. J. 2011 Sep 27; 101 (10): 768-9.
AbstractA 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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