A Case of X-linked Chronic Granulomatous Disease Diagnosed in Identical Twin

ABSTRACT

Chronic granulomatous disease (CGD) is a rare, inherited congenital immunodeficiency disease, characterized by severe and recurrent infections at epithelial surfaces or in more vital organs such as the liver, lung or brain. There are two types of inheritance X-linked recessive and autosomal recessive. The disease is caused by mutations of proteins, which compose the NADPH oxidase of phagocytes. The most common X-linked CGD type exhibits defect in CYBB encoding gp91phox. It rarely arise from intronic mutations within CYBB. This report describes identical twin patients with X-linked form CGD that showed mutations at intron 1.