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01-08-2018 | Letter to Editor

p47^phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease

Authors: 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

Published in: Journal of Clinical Immunology | Issue 6/2018

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 gp91^phox, p22^phox, p47^phox, p67^phox, p40^phox, 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. …

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Title: p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease
Authors: 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
Publication date: 01-08-2018
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 6/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-018-0532-9

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