Detection of CYBA Gene Expression in Egyptian Children with Chronic Granulomatous Disease: A Pilot Study

Abstract

hronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder caused by functional impairment of the nicotinamide dinucleotide phosphate (NADPH) oxidase complex in neutrophilic granulocytes and monocytes and characterized by recurrent and severe infections, dysregulated inflammation, and autoimmunity. Defects in any of the six subunits of the NADPH oxidase enzyme can manifest as CGD. Thus, CGD patients can be phenotypically similar but genetically heterogeneous depending on which NADPH oxidase component is defective. Autosomal recessive forms of CGD are caused by mutations in CYBA gene encoding protein-22 phagocytic oxidase (p22phox). The incidence of autosomal recessive CGD can be higher than X-linked CGD in countries with high rates of consanguineous marriage. The molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. In this regard the present study aimed to assess the real time RT-PCR as an aiding tool in the molecular diagnosis of gene expression of CYBA among CGD child patients.