SAMJ: South African Medical Journal
versão On-line ISSN 2078-5135
versão impressa ISSN 0256-9574
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 2078-5135.
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.