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A Novel Cybb Mutation in Chronic Granulomatous Disease in Iran Pubmed



Tajik S1 ; Badalzadeh M1 ; Fazlollahi MR1 ; Houshmand M2 ; Zandieh F3 ; Khandan S1 ; Pourpak Z1
Authors
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Authors Affiliations
  1. 1. Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
  3. 3. Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Allergy# Asthma and Immunology Published:2016


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. © Copyright Autumn 2016, Iran J Allergy Asthma Immunol. All rights reserved.
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