Seminars in Immunopathology

, Volume 30, Issue 3, pp 209–235

Genetics and immunopathology of chronic granulomatous disease

Review

DOI: 10.1007/s00281-008-0121-8

Cite this article as:
Stasia, M.J. & Li, X.J. Semin Immunopathol (2008) 30: 209. doi:10.1007/s00281-008-0121-8

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency syndrome characterized by a greatly increased susceptibility to severe fungal and bacterial infections. CGD results from a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in the patient’s phagocytes to produce superoxide. It is caused by mutations in any of four genes that encode the components of the NADPH oxidase. Investigation of CGD patients has identified the different subunits and the genes encoding them. Study of rare CGD variants has highlighted sequences involved in the structural stability of affected components or has provided valuable insights into their function in the oxidase activation mechanism. Functional and molecular CGD diagnosis tests are discussed in this review. Long-term antibiotic prophylaxis has been essential in fighting infections associated with CGD, but approaches based on hematopoietic stem cell transplantation and gene therapy offer great hope for the near future.

Keywords

Chronic granulomatous diseasePrimary immunodeficiencyNADPH oxidaseRare variantBone marrow transplantationGene therapy

Abbreviation

CGD

chronic granulomatous disease

AR CGD

autosomal recessive chronic granulomatous disease

X CGD

X-linked chronic granulomatous disease

NADPH

reduced nicotinamide adenine dinucleotide phosphate

FAD

flavin adenine dinucleotide

INT

iodonitrotetrazolium

ROS

reactive oxygen species

PHOX

phagocytic oxidase

TPR

tetratricopeptide repeat

BMT

bone marrow transplantation

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  1. 1.Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique, Laboratoire TIMC/IMAG UMR CNRS 5525Université J. FourierGrenobleFrance
  2. 2.Department of Pediatrics (Hematology/Oncology)Herman B Wells Center for Pediatric Research Indiana University School of MedicineIndianapolisUSA