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

  • R Naidoo
  • N Jordaan
  • KW Chan
  • DM le Roux
  • S Pienaar
  • J Nuttall
  • YL Lau
  • BS Eley


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.

Journal Identifiers

eISSN: 0256-95749
print ISSN: 2078-5135