Characterization of 4 New Mutations in the Cybb Gene in 10 Iranian Families With X-Linked Chronic Granulomatous Disease Publisher Pubmed



Teimourian S^{1, 3} ; Sazgara F¹ ; De Boer M⁶ ; Van Leeuwen K⁶ ; Roos D⁶ ; Lashkary S¹ ; Chavoshzadeh Z⁵ ; Nabavi M² ; Bemanian MH² ; Isaian A⁴
Source: Journal of Pediatric Hematology/Oncology Published: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 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. © 2018 Wolters Kluwer Health, Inc. All rights reserved.