Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 4 2 2005 06 15 103 106 Zahra Rezvani Iraj Mohammadzadeh Zahra Pourpak Mostafa Moin Shahram Teimourian 2015 10 01 In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). Mutation in CYBB gene was detected using SSCP analysis (single-strand conformation polymorphism) followed by sequencing. During screening for mutations in the CYBB gene we observed 880 C T in exon 8. This mutation resulted in 290 Arg Stop. We also observed a change (-270 C A) in the promoter region which needs further investigation. We would like to pursue this study by analyzing more X-CGD patients to find out the CYBB mutation spectrum in Iranian patients. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/107 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/107/107