Mutations of chronic granulomatous disease in Turkish families

KÖKER M. Y., Sanal O., De Boer M., Tezcan I., Metin A., Ersoy F., ...More

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, vol.37, no.7, pp.589-595, 2007 (SCI-Expanded) identifier identifier identifier


Background Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD and have been reported to be responsible for approximately 70% of all CGD cases. The aim of this study was to identify the CGD mutations in a group of Turkish CGD patients and to evaluate the predominance of CGD mutations as X-linked or autosomal recessive (AR) within the Turkish CGD families with known mutations.