title: A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.
abstract: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21.1, leads to X-linked CGD. Herein, we report a 4-year-old Iranian boy presented with episodes of recurrent fever, cervical lymphadenopathy, and abdominal abscesses. Mutation analysis of the CYBB gene in the patient indicated a one-nucleotide deletion, c.316delT, resulting in p.W106GfsX.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shaghayegh
authors.initials: S
authors.lastname: Tajik
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Badalzadeh
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Fazlollahi
authors.affiliation: Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.affiliation: Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fariborz
authors.initials: F
authors.lastname: Zandieh
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shamim
authors.initials: S
authors.lastname: Khandan
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases
keywords: CYBB; Chronic granulomatous disease (CGD); Iran; Mutation; Novel; gp91-phox