SEARCH:   Advanced

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Rae, J. Articles by Cross, A. R. Search for Related Content PubMed PubMed Citation Articles by Rae, J. Articles by Cross, A. R. Related Collections Phagocytes Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, Vol. 96 No. 3 (August 1), 2000: pp. 1106-1112 Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22phox Julie Rae, Deborah Noack, Paul G. Heyworth, Beverly A. Ellis, John T. Curnutte, and Andrew R. Cross From the Department of Immunology, Genentech Inc, South San Francisco; and the Department of Molecular & Experimental Medicine, The Scripps Research Institute, La Jolla, CA. Chronic granulomatous disease is a rare inherited disorder caused by nonexistent or severely decreased phagocyte superoxide production that results in a severe defect in host defense and consequent predisposition to microbial infection. The enzyme responsible for generating the superoxide, NADPH oxidase, involves at least 5 protein components. The absence of, or a defect in, any 1 of 4 of these proteins (p22phox, p47phox, p67phox, or gp91phox) gives rise to the known types of chronic granulomatous disease. One of the rarest forms of the disease is due to defects in the CYBA gene encoding p22phox, which together with gp91phox forms flavocytochrome b558, the catalytic core of NADPH oxidase. To date, only 9 kindreds with p22phox deficiency have been described in the literature comprising 10 mutant alleles. Four polymorphisms in the CYBA gene have also been reported. Here we describe 9 new, unrelated kindreds containing 12 mutations, 9 of which are novel. In addition, we report 3 new polymorphisms. The novel mutations are (a) deletion of exons 2 and 3, (b) a missense mutation in exon 3 (T155C), (c) a splice site mutation at the 5' end of intron 3, (d) a missense mutation in exon 2 (G74T), (e) a nonsense mutation in exon 1 (G26A), (f) a missense mutation in exon 4 (C268T), (g) a frameshift in exon 3 due to the insertion of C at C162, (h) a nonsense mutation in exon 2 (G107A), and (i) a missense mutation in exon 2 (G70A). CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: K. Bedard and K.-H. Krause The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology Physiol Rev, January 1, 2007; 87(1): 245 - 313. [Abstract] [Full Text] [PDF] R. M. Taylor, D. Baniulis, J. B. Burritt, J. M. Gripentrog, C. I. Lord, M. H. Riesselman, W. S. Maaty, B. P. Bothner, T. E. Angel, E. A. Dratz, et al. Analysis of Human Phagocyte Flavocytochrome b558 by Mass Spectrometry J. Biol. Chem., December 1, 2006; 281(48): 37045 - 37056. [Abstract] [Full Text] [PDF] B. Wolach, Y. Scharf, R. Gavrieli, M. de Boer, and D. Roos Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB Blood, January 1, 2005; 105(1): 61 - 66. [Abstract] [Full Text] [PDF] R. M. Taylor, J. B. Burritt, D. Baniulis, T. R. Foubert, C. I. Lord, M. C. Dinauer, C. A. Parkos, and A. J. Jesaitis Site-Specific Inhibitors of NADPH Oxidase Activity and Structural Probes of Flavocytochrome b: Characterization of Six Monoclonal Antibodies to the p22phox Subunit J. Immunol., December 15, 2004; 173(12): 7349 - 7357. [Abstract] [Full Text] [PDF] K. E. Wyche, S. S. Wang, K. K. Griendling, S. I. Dikalov, H. Austin, S. Rao, B. Fink, D. G. Harrison, and A. M. Zafari C242T CYBA Polymorphism of the NADPH Oxidase Is Associated With Reduced Respiratory Burst in Human Neutrophils Hypertension, June 1, 2004; 43(6): 1246 - 1251. [Abstract] [Full Text] [PDF] M. S. Lim and K. S.J. Elenitoba-Johnson The Molecular Pathology of Primary Immunodeficiencies J. Mol. Diagn., May 1, 2004; 6(2): 59 - 83. [Full Text] [PDF] I. Dahan, I. Issaeva, Y. Gorzalczany, N. Sigal, M. Hirshberg, and E. Pick Mapping of Functional Domains in the p22phox Subunit of Flavocytochrome b559 Participating in the Assembly of the NADPH Oxidase Complex by "Peptide Walking" J. Biol. Chem., March 1, 2002; 277(10): 8421 - 8432. [Abstract] [Full Text] [PDF] D. Noack, J. Rae, A. R. Cross, B. A. Ellis, P. E. Newburger, J. T. Curnutte, and P. G. Heyworth Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes Blood, January 1, 2001; 97(1): 305 - 311. [Abstract] [Full Text] [PDF]

	Blood Online is supported in part by Genentech BioOncology and Biogen Idec
	Copyright © 2000 by American Society of Hematology         Online ISSN: 1528-0020