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

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 genetic...

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Bibliographic Details
Published inSouth African medical journal Vol. 101; no. 10; pp. 768 - 769
Main Authors Nuttall, J., Pienaar, S., Le Roux, D.M., Chan, K.W., Eley, B.S., Lau, Y.L., Naidoo, R.
Format Journal Article
LanguageEnglish
Published Health and Medical Publishing Group (HMPG) 01.10.2011
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Summary: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.
ISSN:0256-9574
2078-5135