الفهرس 
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Abstract
Background: chronic 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. Aim of the Work: To diagnose the autosomal recessive (AR) type of CGD among a group of Egyptian pediatric patients with phagocytic dysfunction by detection of Neutrophil Cytosolic Factor 1 (NCF1) gene expression using reverse transcription polymerase chain reaction (RT-PCR) and to correlate it with other diagnostic tests. Patients and Methods: A case-control study was conducted on 15 provisionally diagnosed CGD pediatric patients (group I) by the use of DHR test, with the stimulation index using PMA < 30%. They were recruited from different university hospitals in Egypt. The study also included 12 mothers of the studied patients to detect the genetic mutations in carriers, if any (group II) and 14 apparently healthy children as a control group (group III). Full medical history was taken and thorough clinical examination was done. The selected groups underwent testing for phagocytic and lytic indices, measurement of NCF1 gene expression by real time RT-PCR. Results: The comparative statistics between group I and group III as regards the phagocytic index (PI) revealed a high statistical significant difference between both groups. In addition, a statistically significant difference between both groups as regards lytic index (LI) was revealed. Correlation studies were done using ranked Spearman method between fold change of NCF1 gene expression and each of PI, LI and DHR. The test showed no significant statistical correlation between these parameters in the 3 studied groups. Cases with a fold change of NCF1 gene expression less than 0.48 (cut-off value calculated by the 25th percentile fold change of the control group), are considered having defective NCF1 gene expression. At this cut-off value 2 out of 15 CGD cases and 3 mothers out of 12 showed NCF1 gene under-expression. Conclusion: Assessment of NCF1 gene expression which encodes p47phox by real time RT- PCR in the present study could detect defective gene expression only among two CGD children and their mother as well as two other mothers with no correlation to other studied parameters. Since CGD is a genotypically heterogenous disease; the findings of the present study highlight the importance of molecular testing for diagnosis after screening for NADPH oxidase protein deficiency by flow cytometry.