a novel cybb mutation in chronic granulomatous disease in iran

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.