J Hum Genet 2006 26;51(10):887-95. Epub 2006 Aug 26.
Molecular Investigation of Genetic Orphan Diseases Research Unit, MIGOD, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur 1002, Tunis, Tunisia.
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Eur J Clin Invest 2007 Jul;37(7):589-95
Immunology Division, Hacettepe University Children's Hospital, Ankara, Turkey.
Background: Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD and have been reported to be responsible for approximately 70% of all CGD cases. Read More
Hum Mutat 2006 Dec;27(12):1218-29
Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by defects in any of four genes encoding components of the leukocyte nicotinamide dinucleotide phosphate, reduced (NADPH) oxidase. One of these is the autosomal neutrophil cytosolic factor 1 (NCF1) gene encoding the p47phox protein. Most (>97%) CGD patients without p47phox (A47 degrees CGD) are homozygotes for one particular mutation in NCF1, a GT deletion in exon 2. Read More
Arch Immunol Ther Exp (Warsz) 2004 Nov-Dec;52(6):441-6
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Introduction: Chronic granulomatous disease (CGD)is a rare inherited disorder in which phagocytic cells are unable to generate superoxide anions. Patients with CGD are predisposed to recurrent bacterial and fungal infections because the superoxide-generating NADPH oxidase activity is needed for efficient killing of microbes. Among the at least 5 subunits cre-ating a functional NADPH oxidase, a molecular defect located in any of the gp91phox, p22phox, p47phox, or p67phox subunits may cause CGD. Read More
Eur J Clin Invest 2009 Apr;39(4):311-9
Pediatric Immunology Unit, University of Hacettepe, Ankara, Turkey.
Background: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons. Read More