title: A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa.
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.
authors.affiliation: Paediatric Infectious Diseases Unit, Red Cross War Memorial Childrens's Hospital, Cape Town, South Africa. Reene.Naidoo@uct.ac.za
authors.forename: R
authors.initials: R
authors.lastname: Naidoo
authors.forename: N
authors.initials: N
authors.lastname: Jordaan
authors.forename: K W
authors.initials: KW
authors.lastname: Chan
authors.forename: D M
authors.initials: DM
authors.lastname: Le Roux
authors.forename: S
authors.initials: S
authors.lastname: Pienaar
authors.forename: J
authors.initials: J
authors.lastname: Nuttall
authors.forename: Y L
authors.initials: YL
authors.lastname: Lau
authors.forename: B S
authors.initials: BS
authors.lastname: Eley
mesh_terms: D001232:Aspergillus fumigatus / Q000235:genetics; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000382:microbiology*; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence; D013019:South Africa; D014397:Tuberculosis, Pulmonary / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases