title: Chronic granulomatous disease.
abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, the liver, the brain and the bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella species.
  
  
  
  CGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes.
  
  
  
  CGD patients suffer not only from life-threatening infections, but also from excessive inflammatory reactions.
  
  
  
  Neither the cause of these inflammatory reactions nor the way to treat them is clear.
  
  
  
  Patient selection for and timing of bone marrow transplantation along with gene therapy.
authors.affiliation: Department of Blood Cell Research, Sanquin Blood Supply Organisation, Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands d.roos@sanquin.nl.
authors.forename: Dirk
authors.initials: D
authors.lastname: Roos
mesh_terms: D001424:Bacterial Infections / Q000235:genetics / Q000382:microbiology / Q000628:therapy; D016026:Bone Marrow Transplantation; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics / Q000382:microbiology / Q000628:therapy; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009154:Mutation / Q000235:genetics; D009181:Mycoses / Q000235:genetics / Q000382:microbiology / Q000628:therapy; D019255:NADPH Oxidases / Q000235:genetics; D010586:Phagocytes
chemical_list: D019255:NADPH Oxidases
keywords: IL-1β; NADPH oxidase; autophagy; autoreactive T cells; chronic granulomatous disease; hyperinflammation