Main Article Content

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

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.

Journal Identifiers


eISSN: 2078-5135
print ISSN: 0256-9574