An Iranian Patient Suffering from Chronic Granulomatous Disease, with Mutation in the NCF1 Gene

Document Type: Case Report

Authors

Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran

10.22034/igj.2020.225558.1037

Abstract

Chronic granulomatous disease (CGD) is an innate immunodeficiency characterized by an increased susceptibility to recurrent infections and granulomatous inflammation. CGD results from the loss of phagocyte superoxide production caused by a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme. It is caused by recessive mutations in any of four genes that encode subunits of the NADPH oxidase. The most common autosomal recessive form of CGD is p47phox encoded by the NCF1 gene which is clinically milder. In this case study, we report a boy with lung abscess and recurrent oral thrush presentations. Whole exome sequencing (WES) test was performed to identify the underlying genetic mutation in this patient. WES of the patient reported a homozygous deletion mutation in the NCF1 gene (NM_608512: exon2: c.75_76delGT). Our data shows that early detection of NCF1 mutation has a wide heterogeneity in clinical manifestations of the patients.

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