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

R Naidoo; N Jordaan; K W Chan; D M Le Roux; S Pienaar; J Nuttall; Y L Lau; B S Eley

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

S Afr Med J. 2011 Sep 27;101(10):768-9.

Authors

R Naidoo¹, N Jordaan, K W Chan, D M Le Roux, S Pienaar, J Nuttall, Y L Lau, B S Eley

Affiliation

¹ Paediatric Infectious Diseases Unit, Red Cross War Memorial Childrens's Hospital, Cape Town, South Africa. Reene.Naidoo@uct.ac.za

PMID: 22272860

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.

Publication types

Case Reports

MeSH terms

Aspergillus fumigatus / genetics
Child, Preschool
Genetic Diseases, X-Linked / genetics*
Granulomatous Disease, Chronic / genetics*
Granulomatous Disease, Chronic / microbiology*
Humans
INDEL Mutation*
Male
Membrane Glycoproteins / genetics*
NADPH Oxidase 2
NADPH Oxidases / genetics*
Pedigree
Recurrence
South Africa
Tuberculosis, Pulmonary / genetics

Substances

Membrane Glycoproteins
CYBB protein, human
NADPH Oxidase 2
NADPH Oxidases