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Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.
- Source :
-
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2018 Jul; Vol. 40 (5), pp. e268-e272. - Publication Year :
- 2018
-
Abstract
- Chronic granulomatous disease (CGD) is an inherited disease of the innate immune system that results from defects in 1 of the 5 subunits of nicotinamide adenine dinucleotide phosphate oxidase complex and leads to life-threatening infections with granuloma formation. During 3 years of study, we recognized 10 male patients with X-linked CGD from a tertiary referral center for immune deficiencies in Iran. The CGD patients were diagnosed according to clinical features and biochemical tests, including nitroblue tetrazolium and dihydrorhodamine-1, 2, 3 tests, performed on patients and their mothers. In all patients, Western blot analysis showed a gp91 phenotype. Mutation screening by single strand conformation polymorphism and multiplex ligation-dependent probe amplification analysis of the CYBB gene encoding gp91, followed by sequencing, showed 9 different mutations, 4 of them novel as far as we know.
Details
- Language :
- English
- ISSN :
- 1536-3678
- Volume :
- 40
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of pediatric hematology/oncology
- Publication Type :
- Academic Journal
- Accession number :
- 29702544
- Full Text :
- https://doi.org/10.1097/MPH.0000000000001189