A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.

A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran. Iran J Allergy Asthma Immunol. 2016 Oct;15(5):426-429 Authors: Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Zandieh F, Khandan S, Pourpak Z 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. PMID: 27917630 [PubMed - in process]
Source: Iranian Journal of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Iran J Allergy Asthma Immunol Source Type: research