Erschienen in:
09.08.2018 | Letter to Editor
p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease
verfasst von:
Gouri P. Hule, Purva R. Kanvinde, Manasi A. Kulkarni, Karin van Leeuwen, Martin de Boer, Umair Ahmed Bargir, Prasad D. Taur, Mukesh M. Desai, Manisha R. Madkaikar
Erschienen in:
Journal of Clinical Immunology
|
Ausgabe 6/2018
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Excerpt
Chronic granulomatous disease (CGD) is a group of primary immunodeficiency disorders (PID) caused by a genetic defect in any one of the subunits encoding nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase. Mutations in this enzyme complex result in inability to produce reactive oxygen species (ROS) leading to phagocyte dysfunction. NADPH oxidase complex is made up of six subunits consisting of gp91phox, p22phox, p47phox, p67phox, p40phox, and GTPase Rac, encoded by the genes CYBB (cytochrome b-245 beta subunit), CYBA (cytochrome b-245 alpha subunit), NCF1 (neutrophil cytosolic factor 1), NCF2 (neutrophil cytosolic factor 2), NCF4 (neutrophil cytosolic factor 4), and RAC (RAC1 and RAC2), respectively. …