Chronic granulomatous disease (CGD) is the most common type of primary innate immune deficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in the neutrophils. (1) It's considered as a fatal granulomatous disease of childhood as most patients with CGD die by 10 years of age. (2) Any mutation at one of the genes encoding for glycoproteins that are forming the five subunits of the NADPH oxidase enzyme leads to CGD. If the mutation leaves some residual NADPH oxidase activity intact the clinical expression of the disease is attenuated and prognosis is better. (3) CGD can be treated by conventional treatment, stem cell transplantation or genetic therapy. (4) The (DHR) test was approved to be the gold standard for diagnosis of CGD. (5)
Aim of the work
The aim of the present study is to detect the effect of active infections on the interpretation of DHR test results in chronic granulomatous disease patients and patients with active infections with no evidence of CGD.