Journal
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
Volume 40, Issue 5, Pages E268-E272Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0000000000001189
Keywords
CYBB; X-CGD; mutation detection
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Funding
- Iran University School of medicine [93-04-30-25261]
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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(0) phenotype. Mutation screening by single strand conformation polymorphism and multiplex ligation-dependent probe amplification analysis of the CYBB gene encoding gp91(phox), followed by sequencing, showed 9 different mutations, 4 of them novel as far as we know.
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