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Title: A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease
Authors: Orathai Jirapongsananuruk
Deborah Noack
Siribangon Boonchoo
Charin Thepthai
Kulkanya Chokephaibulkit
Nualanong Visitsunthorn
Pakit Vichyanond
Voravich Luangwedchakarn
Surachai Likasitwattanakul
Surapon Piboonpocanun
Mahidol University
Scripps Research Institute
Keywords: Immunology and Microbiology;Medicine
Issue Date: 1-Dec-2007
Citation: Asian Pacific Journal of Allergy and Immunology. Vol.25, No.4 (2007), 249-252
Abstract: We evaluated a boy who had multiple Salmonella septicemia, Aspergillus pneumonia and brain abscesses. His nitroblue tetrazolium (NBT) test was reportedly abnormal. The dihydrorhodamine (DHR) flow cytometry assay was compatible with typical X-linked chronic granulomatous disease (X-CGD). CYBB analysis revealed a novel complex mutation atggacg → ttca in exon 12 (base pairs 1532-1538). As a result, 3 amino acids Tyr 511, Gly 512 and Arg 513 were deleted and replaced by 2 amino acids, Phe and Gin. The DHR and mutation analysis of his mother showed normal DHR pattern and no mutations in exon 12 of CYBB gene. In conclusion, any children with multiple Salmonella and Aspergillus infection should be suspected of CGD. NBT test, DHR assay and gene analysis are helpful tools to confirm the diagnosis even in the case of de novo mutation.
ISSN: 0125877X
Appears in Collections:Scopus 2006-2010

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