title: Inflammation and repeated infections in CGD: two sides of a coin.
abstract: Chronic granulomatous disease (CGD) is an uncommon congenital immunodeficiency seen approximately in 1 of 250,000 individuals. It is caused by a profound defect in a burst of oxygen consumption that normally accompanies phagocytosis in all myeloid cells (neutrophils, eosinophils, monocytes, and macrophages). This "respiratory burst" involves the catalytic conversion of molecular oxygen to the oxygen free-radical superoxide, which in turn gives rise to hydrogen peroxide, hypochlorous acid, and hydroxyl radicals. These oxygen derivatives play a critical role in the killing of pathogenic bacteria and fungi. As a result of the failure to activate the respiratory burst in their phagocytes, the majority of CGD patients suffer from severe recurrent infections and rather unexplained prolonged inflammatory reactions that may result in granulomatous lesions. Both may cause severe organ dysfunction depending on the tissues involved. Preventive measures as well as rapid (invasive) diagnostic procedures are required to successfully treat CGD. Hematopoietic stem cell transplantation may be a serious option in some of the patients.
authors.affiliation: Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. t.w.kuijpers@amc.uva.nl
authors.forename: Taco
authors.initials: T
authors.lastname: Kuijpers
authors.forename: Rene
authors.initials: R
authors.lastname: Lutter
mesh_terms: D000818:Animals; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000276:immunology; D006801:Humans; D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase / Q000276:immunology / Q000378:metabolism; D007249:Inflammation / Q000276:immunology* / Q000378:metabolism; D020381:Interleukin-17 / Q000276:immunology / Q000378:metabolism; D007737:Kynurenine / Q000276:immunology / Q000378:metabolism*; D008297:Male; D051379:Mice; D023421:Models, Animal; D019255:NADPH Oxidases / Q000172:deficiency / Q000276:immunology; D051267:NF-E2-Related Factor 2 / Q000172:deficiency / Q000276:immunology; D010585:Phagocyte Bactericidal Dysfunction / Q000276:immunology; D010586:Phagocytes / Q000276:immunology / Q000473:pathology; D010587:Phagocytosis / Q000502:physiology; D016897:Respiratory Burst / Q000276:immunology; D013481:Superoxides / Q000276:immunology / Q000378:metabolism; D050378:T-Lymphocytes, Regulatory / Q000276:immunology / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000276:immunology / Q000378:metabolism
chemical_list: D050503:Indoleamine-Pyrrole 2,3,-Dioxygenase; D020381:Interleukin-17; D051267:NF-E2-Related Factor 2; D016212:Transforming Growth Factor beta; D013481:Superoxides; D007737:Kynurenine; D019255:NADPH Oxidases
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