Missense Mutation in AR-CGD

Köker M. Y., Avcılar H.

in: "Mutations in Human Genetic Disease", David N. Cooper and Jian-Min Chen, Editor, Intech, New-York, pp.1-10, 2012

  • Publication Type: Book Chapter / Chapter Research Book
  • Publication Date: 2012
  • Publisher: Intech
  • City: New-York
  • Page Numbers: pp.1-10
  • Editors: David N. Cooper and Jian-Min Chen, Editor
  • Erciyes University Affiliated: Yes


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 nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB gene, lead to X-linked CGD and have been reported to be responsible for approximately 65% of all CGD cases. The autosomal gene in CGD are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox (figure 1) (1,2). The mutation in thesegenes, respectively, abolishes the activity of the oxidase and leads to autosomal recessive chronic granulomatous disease (AR-CGD) which is approximately 35% of all CGD cases (table 1).