a novel cybb mutation in chronic granulomatous disease in iran
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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.
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In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). Mutation in CYBB gene was detected using SSCP analysis (single-strand conformation polymorphism) followed by sequencing. During screening for mutations in the CYBB gene we observed 880 CT in exon 8. This mutation resulted in 290 ArgStop. We also observed a...
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Journal title:
iranian journal of allergy, asthma and immunologyجلد ۱۵، شماره ۵، صفحات ۴۲۶-۴۲۹
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