Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 15 5 2016 10 31 426 429 EN Shaghayegh Tajik Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohsen Badalzadeh Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohammad Reza Fazlollahi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Massoud Houshmand Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran Fariborz Zandieh Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran Shamim Khandan Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Zahra Pourpak Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran 2016 02 14 2016 06 05 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/819 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/819/669