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Published January 1, 2021 | Version v1
Journal article Open

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Creators

  • 1. NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
  • 2. Frederick Natl Lab Canc Res, Neutrophil Monitoring Lab, Appl Dev Res Directorate, Frederick, MD USA
  • 3. GeneDx, Gaithersburg, MD USA
  • 4. Postgrad Inst Med Educ & Res, Adv Paediat Ctr, Dept Paediat, Paediat Allergy Immunol Unit, Chandigarh, India
  • 5. ICMR, Natl Inst Immunohaematol, 13th Floor,KEM Hosp Campus, Mumbai 400012, Parel, India
  • 6. Univ Jordan, Infect Dis & Vaccine Ctr, Amman, Jordan
  • 7. Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany
  • 8. Erciyes Univ, Dept Immunol, Sch Med, Kayseri, Turkey
  • 9. Odense Univ Hosp, Dept Clin Immunol, Odense, Denmark
  • 10. La Paz Univ Hosp, Dept Immunol, IdiPaz, Madrid, Spain
  • 11. Hacettepe Univ, Dept Pediat, Sect Pediat Immunol, Fac Med, TR-06100 Ankara, Turkey

Description

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22(phox), NCF1, encoding p47(phox), NCF2, encoding p67(phox) and NCF4, encoding p40(phox). This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b(558) chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91(phox) (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.

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