Microb Pathog 2016 Nov 23;100:163-169. Epub 2016 Sep 23.
The Department of Chemistry, University of Oxford, Oxford, United Kingdom.
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J Clin Immunol 2015 Feb 10;35(2):158-67. Epub 2015 Feb 10.
Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan,
Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency disease that is characterized by susceptibility to bacterial and fungal infections. Various mutations in CYBB encoding the gp91(phox) subunit of the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase impair the respiratory burst of all types of phagocytic cells and result in X-linked CGD (X-CGD).
Purpose: We here sought to evaluate the underlying cause in an attenuated phenotype in an X-CGD patient. Read More
Hum Genet 2005 Jan 6;116(1-2):72-82. Epub 2004 Nov 6.
Laboratoire d'Enzymologie, GREPI EA 2938 UJF, CHU 38043, Grenoble Cedex 9, France.
Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O(2) (-)). The most common form is caused by mutations in CYBB encoding gp91 phox, the heavy chain of flavocytochrome b(558) (XCGD). We investigated 11 male patients and their families suspected of suffering from X-linked CGD. Read More
J Clin Immunol 2012 Oct 5;32(5):942-58. Epub 2012 May 5.
Chronic Granulomatous Disease Diagnosis and Research Centre (CDiReC), Pôle Biologie, CHU de Grenoble, Grenoble, 38043, France.
Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families. Read More
J Allergy Clin Immunol 2013 Nov 31;132(5):1156-1163.e5. Epub 2013 Jul 31.
Immunology Department and GenKök Laboratory of Immunology, Faculty of Medicine, University of Erciyes, Kayseri, Turkey. Electronic address:
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding the components p22(phox), p47(phox), p67(phox), and p40(phox) of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91(phox) leads to X-linked recessive CGD. Read More