A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa
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.
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| Main Authors: | , , , , , , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
South African Medical Association
2011
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| Online Access: | http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742011001000035 |
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