Evaluation of NF-kB in gene regulation of NADPH oxidase system in patients with ectodermal dysplasia with immunodeficiency

Abstract

Introduction: Anhidrotic ectodermal dysplasia with immunodeficiency (AED) is a disease characterized by mutations in the genes encoding NF-kB. Objective: To evaluate the effect of NF-kB in gene regulation of NADPH oxidase components of patients with AED. Methods: Peripheral blood of patients with AED and healthy individuals were collected for separation of mononuclear cells obtained from peripheral blood and B cells were immortalized with Epstein-Barr virus (B-EBV) to produce superoxide anion and RNA extraction for polymerase chain reaction in real time of NADPH oxidase components. Results: The production of superoxide anion and the expression of NCF1 and NCF2 genes in AED patients was statistically lower when compared to the control group. Conclusion: NF-KB is required for the expression of NCF1 and NCF2 gens of NADPH oxidase system and superoxide anion production, important in the defense against microorganisms.