M Mollin, S Beaumel, B Vigne, J Brault, N Roux-Buisson, J Rendu, V Barlogis, G Catho, C Dumeril, F Fouyssac, D Monnier, V Gandemer, M Revest, J-P Brion, C Bost-Bru, E Jeziorski, L Eitenschenck, C Jarrasse, S Drillon Haus, M Houachée-Chardin, M Hancart, G Michel, Y Bertrand, D Plantaz, J Kelecic, R Traberg, L Kainulainen, J Fauré, F Fieschi, M J Stasia
Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X-linked CGD (X91-CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X910 , X91- or X91+ ), according to NADPH oxidase 2 (NOX2) expression and NADPH oxidase activity in neutrophils...
September 20, 2020: Clinical and Experimental Immunology