Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 11 4 2012 12 15 340 344 EN Mohsen Badalzadeh Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Fatemeh Fattahi 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 Shaghayegh Tajik Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohammad Hassan Bemanian Department of Pediatrics, Division of Allergy and Immunology, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Fatemeh Behmanesh Allergy Research Center, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Massoud Movahedi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Department of Immunology and Allergy, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran Massoud Houshmand Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran Zahra Pourpak Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Department of Immunology and Allergy, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2015 10 16 Chronic granulomatous disease (CGD), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. NCF2 gene (encoding P67-phox component) is one of them and its mutation is less common to cause CGD (around 5-6%). Here, we assessed mutation analysis of NCF2 in 4 CGD patients with p67-phox defect in Iran. These patients showed classical CGD symptoms. NCF2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304C>T (Arg102X) in one case and a CA deletion in exon 13 (Leu346fsX380) in one brother and sister;the latter is a new mutation which has not been reported in previous studies. In another patient in whom the attempts to amplify exon 2 individually from genomic DNA  were unsuccessful, PCR amplification of exon 2 revealed no band of this exon on agarose gel. A PCR amplification mix of  exon  2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. Although a gross deletion in other exons of NCF2  has been previously reported, a large deletion encompassing exon 2 has been not reported yet. This abstract was also presented in ESID 2012, Florence, Italy. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/542 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/542/508