Abstract
BackgroundChronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. Previous study showed that three variants, c.214 T > C (rs4673), c.521 T > C (rs1049254) and c.*24G > A (rs1049255), in CYBA gene form a haplotype, which are associated with decreased reactive oxygen species generation. The study aims to confirm the three above mentioned variants are benign and report a novel mutation in CYBB gene.MethodsA patient with CGD and his family members were enrolled in the study. NADPH oxidase activity and gp91phox protein expression of neutrophils were analyzed by flow cytometry. Direct sequencing was used to detect CYBB and CYBA gene mutations.ResultsThe patient was diagnosed with CGD according to clinical and immune phenotype. The case has a novel homozygous mutation in CYBB gene and the above mentioned three variants in CYBA gene. The mutation in CYBB gene was confirmed to be pathogenic, and the three variants in CYBA gene to be benign.ConclusionsThe study not only reported a novel mutation in CYBB, which results in CGD, but also confirmed the above mentioned three variants in CYBA are benign.
Highlights
Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase [1]
Protein p22phox was discovered as the membrane subunit associated with NADPH oxidase 2, encoded by CYBA [5, 6] and more than 240 polymorphisms in the CYBA gene have been reported in dbSNP
We found a CGD patient with a novel homozygous mutation in CYBB gene and the above
Summary
Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. The study aims to confirm the three above mentioned variants are benign and report a novel mutation in CYBB gene. Mutations in CYBB gene, encoding the gp91phox subunit, result in X-linked CGD that affects the majority of CGD patients (~70%) [4]. Protein p22phox was discovered as the membrane subunit associated with NADPH oxidase 2, encoded by CYBA [5, 6] and more than 240 polymorphisms in the CYBA gene have been reported in dbSNP [7]. Some polymorphisms of the CYBA gene cause reactive oxygen species (ROS) generation failure and susceptibility to infection and autoinflammation, referred to autosomal CGD [8, 9]
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