| چکیده انگلیسی مقاله |
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. |
| نویسندگان مقاله |
محسن بدل زاده | mohsen badalzadeh
immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
فاطمه فتاحی | fatemeh fattahi
immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
محمد رضا فضل اللهی | mohammad reza fazlollahi
immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
شقایق تاجیک | shaghayegh tajik
immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
محمد حسن بمانیان | 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
فاطمه بهمنش | fatemeh behmanesh
allergy research center, ghaem hospital, school of medicine, mashhad university of medical sciences, mashhad, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
مسعود موحدی | 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
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
مسعود هوشمند | massoud houshmand
department of medical genetics, national institute of genetic engineering and biotechnology, tehran, iran
سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری
زهرا پورپاک | 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
سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)
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