Revisão Revisado por pares

The Genetic Basis of Chronic Granulomatous Disease

1994; Wiley; Volume: 138; Issue: 1 Linguagem: Inglês

10.1111/j.1600-065x.1994.tb00850.x

ISSN

1600-065X

Autores

Dirk Roos,

Tópico(s)

Immune cells in cancer

Resumo

Immunological ReviewsVolume 138, Issue 1 p. 121-157 The Genetic Basis of Chronic Granulomatous Disease Dirk Roos, Corresponding Author Dirk Roos Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, and Laboratory of Experimental and Clinical Imminology of the University of Amsterdam, Amsterdam, The Netherlands.Dr. D. Roos. Central Laboratory of the Netherlands Red Cross, Plesmanlaan 125, 1066 CX Amsterdam, R O. Box 9190, 1006 AD Amsterdam, the Netherlands. Phone: 31-20-512 3317, Fax: 31-20-512 3310.Search for more papers by this author Dirk Roos, Corresponding Author Dirk Roos Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, and Laboratory of Experimental and Clinical Imminology of the University of Amsterdam, Amsterdam, The Netherlands.Dr. D. Roos. Central Laboratory of the Netherlands Red Cross, Plesmanlaan 125, 1066 CX Amsterdam, R O. Box 9190, 1006 AD Amsterdam, the Netherlands. Phone: 31-20-512 3317, Fax: 31-20-512 3310.Search for more papers by this author First published: April 1994 https://doi.org/10.1111/j.1600-065X.1994.tb00850.xCitations: 101AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Abo, A., Boyhan, A., West, I., Thrasher, A. J. & Segal, A. W. (1992) Reconstitution of neutrophil NADPH oxidase activity in the cell-free system by four components: p67-phox, p47-phox, p21racl, and cytochrome v−245 J. Biol. Chem. 267, 16767. Abo, A., Pick, E., Hall, A., Totty, N., Teahan, C. G. & Segal, A. W. (1991) Activation of the NADPH oxidase involves the small GTP-binding protein p21racl. Nature 353, 668. Ambruso, D. R., Bolscher, B. G. J. M., Stokman, R. M., Verboeven, A. J. & Roos, D. (1990) Assembly and activation of the NADPH: O2 oxidoreductase in human neutrophils after stimulation with phorbol-myristate acetate. J. Biol Chem. 265, 924. correction: J. Biot. Chem. 265, 19370. Ando, S., Kaibuchi, K., Sasaki, T. Hiraoka, K., Nishiyama, T., Mizuno, T., Asada, M., Nunoi, H., Matsuda, I., Matsuura, Y., Polakis, P., McCormick, F. & Takai, Y. (1992) Post-translational processing of rac p21s is important both for their interaction with GDP/GTP exchange proteins and for their activation of NADPH oxidase. J. Biol. Chem. 267, 25709. Battat, L. & Francke, U. (1989) Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Nucleic Acids Res. 17, 3619. Berton, G., Zeni, L., Cassatella, M. A. & Rossi, F. (1986) Gamma interferon is able to enhance the oxidative metabolism of human neutrophils, Biochem. Biophys. Respondent. Commun. 138, 1276. Bohler, M. C., Seger, R. A., Mouy, R., Vilmer, E., Fischer, A. & Griscelli, C. (1986) A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b and flavoprotein. J. Clin. Immunol. 6, 136. Bolscher, B. G. J. M., De Boer, M., De Klein, A., Weening, R. S. & Roos, D. (1991) Point mutations in the β-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. Blood 77, 2482. Bolscher, B. G. J. M., van Zwieten, R., Kramer, IJ. M., Weening, R. S., Verhoeven, A. J. & Roos, D. (1989) A phosphoprotein of Mr 47,000, defective in autosomal chronic granulomatous disease, copurifies with one of two soluble components required for NADPH:O2 oxidoreductase activity in human neutrophils. J. Clin. Invest. 83, 757. Bolscher, B. G. J. M., Denis, S. W., Verhoeven, A. J. & Roos, D (1990) The activity of one soluble component of the cell-free NADPH:O2 oxidoreductase of human neutrophils depends on guanosine 5′-0-(3-thio)-triphosphate. J. Biol. Chem. 265, 15782. Casimir, C. M., Bu-Ghanim, H., Rodaway, A. R., Bentley, D. L., Rowe, P. & Segal, A. W. (1991) Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc. Natl. Acad Sci. USA 88, 2753. Casimir, C., Chetty, M., Bohler, M.-C, Garcia, R., Fischer, A., Griscelli, C., Johnson, B. & Segal, A. W. (1992) Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families. Eur. J. Clin. Invest. 22, 403. Cassatella, M. A., Delia Bianca, V., Berton, G. & Rossi, F. (1985) Activation by gamma interferon of human macrophage capability to produce toxic oxygen molecules is accompanied by decreased Km of the superoxide-generating NADPH oxidase. Biochem. Biophys. Res. Commun. 132, 908. Chanock, S. J., Barrett, D. M., Curnutte, J. T. & Orkin, S. H. (1991) Gene structure of the cytolosic component, phox-47 and mutations in autosomal recessive chronic granulomatous disease. Blood 78, 165a. Chanock, S. J., Faust, L-R. P., Barrett, D., Bizal, C., Maly, F. E., Newburger, P. E., Ruedi, J. M., Smith, R. M. & Babior, B. M. (1992) O−2 production by B lymphocytes lacking the respiratory burst oxidase subunit p47-phox after transfection with an expression vector containing a p47-phox cDNA. Proc. Nail. Acad. Sci. USA 89, 10174. Clark, R. A., Malech, H. L., Gallin, J. I., Nunoi, H., Volpp, B. D., Pearson, D. W., Nauseef, W. M. & Curnutte, J. T. (1989) Genetic variants of chronic granulomatous disease: Prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N. Engl, J. Med. 321, 647. Clark, R. A., Volpp, B. D, Leidal, K. G. & Nauseef, W. M. (1990) Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J. Clin. Invest. 85, 714. Cobbs, C. S., Malech, H. L., Leto, T. L., Freeman, S. M., Blaese, R. M., Gallin, J. I. & Lomax, K. J. (1992) Retroviral expression of recombinant p47-phox protein by Epstein-Barr virus-transformed B lymphocytes from a patient with autosomal chronic granulomatous disease. Blood 79, 1829. Cross, A. R. & Curnutte, J. T. (1993) P47-phox and p67-phox have individual roles in controlling electron flow in neutrophil NADPH-oxidase. FASEB J 267, A1172. Cross, A. R., Jones, O. T. G., Harper, A. M. & Segal, A. W. (1981) Oxidation-reduction properties of the cytrochrome b found in the plasma membrane fraction of human neutrophils: a possible oxidase in the respiratory burst, Biochem, J. 194, 599. Curnutte, J. T. (1993) Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin. Immunol. Immunopathol. 67, S2. Curnutte, J. T., Orkin, S. H. & Dinauer, M. C. (1993) Genetic disorders of phagocyte function. In: The Molecular Basis of Blood Diseases, 2nd Edition, eds G. Stamatoyannopoulos et al., in press. de Boer, M., Bolscher, B. G. J. M., Dinauer, M. C., Orkin, S. H., Smith, C. I. E., Åhlin, A., Weening, R. S. & Roos, D. (1992b) Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80, 1553. de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S. & Roos, D. (1992c) Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenat. Diag. 12, 773. De Boer, M., De Klein, A., Hossle, J.-P., Seger, R., Corbeel, L., Weening, R. S. & Roos, D. (1992a) Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). Am. J. Hum. Genet. 51, 1127. de Boer, M., Hilarius-Stokman, P. M., Hossle, J.-P, Verhoeven, A. J., Graf, N., Kenney, R. T., Seger, R. & Roos, D. (1994) Autosomal recessive chronic granulomatous disease with absence of the 67-kDa cytosolic NADPH oxidase component: identification of mutation and detection of carriers. Blood 83, 531. de Saint-Basile, G., Bohler, M. C., Fischer, A., Cartron, J., Dufier, J. L., Griscelli, C. & Orkin, S. H. (1988) Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum. Genet. 80, 85. Dinauer, M. C., Curnutte, J. T., Rosen, H. & Orkin, S. A. (1989) A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J. Clin. Invest. 84, 2012. Dinauer, M. C., Pierce, E. A., Bruns, G. A. P., Curnutte, J. T. & Orkin, S. H. (1990) Human neutrophil cytocrome-b light chain (p22-phox): Gene structure, chromosomal location, and mutations in cytochrome negative autosomal recessive chronic granulomatous disease. J. Clin. Invest. 86, 1729. Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J. & Parkos, C. A. (1987) The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327, 717. Dinauer, M. C., Pierce, E. A., Erickson, R. W., Mühlebach, T. J., Messner, H., Orkin, S. H., Seger, R. A. & Curnutte, J. T. (1991) Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytrochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc. Natl. Acad. Sci. USA 88, 11231. Doussière, J., Brandolin, G., Derrien, V, & Vignais, P. V. (1993) Critical assessment of the presence of an NADPH binding site on neutrophil cytochrome b558 by photoaffinity and immunochemical labeling. Biochemistry 32, 8880. Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H. & Newburger, P. E. (1988) Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. N. Engl, J. Med. 319, 146. Ezekowitz, R. A. B., Orkin, S. H. & Newburger, P. E. (1987) Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression m X-linked variant chronic granulomatous disease. J. Clin. Invest. 80, 1009. Fischer, A., Friedrich, W., Fasth, A., Blanche, S., Le Deist, F., Girault, D., Veber, F., Vossen, J., Lopez, M., Griscelli, C. & Hirn, M. (1991) Reduction of graft failure by a monoclonal antibody (anti-LFA-1 CD11a) after HLA nonidentical bone marrow transplantation in children with immunodeficiencies, osteopetrosis, and Fanconi's anemia: a European group for immunodeficiency/European group for bone marrow transplantation report. Blood 77, 249. Fischer, A., Segal, A. W., Seger, R. & Weening, R. S. (1993) The management of chronic granulomatous disease. Eur J. Pediatr 152, 896. Forrest, C. B., Forehand, J. R., Axtell, R. A., Roberts, R. L. & Johnston, R. B. (1988) Clinical features and current management of chronic granulomatous disease. Hematol. Oncol. Clin, N. Am. 2, 253. Francke, U., Hsieh, C.-L., Foellmer, B. E., Lomax, K. J., Malech, H. L. & Leto, T. L. (1990a) Genes for two autosomal recessive forms of chronic granulomatous disease assigned to Iq25 (NCF2) and 7q11.23 (NCF1). Am. J. Hum. Genet. 47, 483. Francke, U., Ochs, H. D., Darras, B. T. & Swaroop, A. (1990b) Origin of mutations in two families with X-linked chronic granulomatous disease. Blood 76, 602. Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V, Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G-J. B., Pearson, P. L. & Wedgwood, R. J. (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am. J. Hum. Gen. 37, 250. Frey, D., Mächner, M., Seger, R. A., Schmid, W. & Orkin, S. H. (1988) Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: Xk mapping of the X gene locus. Blood 71, 252. Gallin, J. I., Buescher, E. S., Seligmann, B. E., Nath, J., Gaither, T. & Katz, P. (1983) Recent advances in chronic granulomatous disease. Ann. Intern. Med. 99, 657. Garcia, R. C. & Segal, A. W. (1988) Phosphorylation of the subunits of cytochrome b−245 upon triggering of the respiratory burst of human neutrophils and macrophages. Biochem J. 252, 901. Gorlin, J. (1991) Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis. Blood 78, 433a. Heyworth, P. G., Curnutte, J. T., Nauseef, W. M., Volpp, B. D., Pearson, D. W., Rosen, H. & Clark, R. A. (1991) Neutrophil nicotinamide adenine dinucleotide phosphate (reduced form) oxidase assembly: Translocation of p47-phox and p67-phox requires interaction between p47-phox and cytochrome b558 J. Clin. Invest. 87, 352. Heyworth, P. G., Knaus, U. G., Xu, X., Uhlinger, D. J., Conroy, L., Bokoch, G. M. & Curnutte, J. T. (1993) Requirement for posttranslational processing of Rac GTP-binding proteins for activation of human neutrophil NADPH oxidase. Mol. Biol Cell. 4, 261. Heyworth, P. G., Shrimpton, C. F. & Segal, A. W. (1989) Localization of the 47kDa phosphoprotein involved in the respiratory-burst NADPH oxidase of phagocytic cells. Biochem, J. 260, 243. Hossle, J.-P., de Boer, M., Seger, R. A. & Roos, D. (1994) Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis. Hum. Genet. (in press). Hurst, J. K., Loehr, T. M., Curnutte, J. T. & Rosen, H. (1991) Resonance Raman and electron paramagnetic resonance structural investigations of neutrophil cytochrome b558. J. Biol. Chem. 266, 1627. Imajoh-Ohmi, S., Tokita, K., Ochiai, H., Nakamura, M. & Kanegasaki, S. (1992) Topology of cytochrome b558 in neutrophil membrane analyzed by anti-peptide antibodies and proteolysis. J. Biol. Chem. 267, 180. International Chronic Granulomatous Disease Cooperative Study Group. (1991) A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N. Engl J. Med. 324, 509. Isogai, Y., Iizuka, T. Makino, R., Iyanagi, T. & Orii, Y. (1993) Superoxide-producing cytochrome b. Enzymatic and electron paramagnetic resonance properties of cytochrome b558 purified from neutrophils. J. Biol. Chem. 268, 4025. Kamani, N., August, C. S., Campbell, D. E., Hassan, N. F. & Douglas, S. D. (1988) Marrow transplantation in chronic granulomatous disease: An update, with 6-year follow-up, J. Pediatr. 113, 697. Kenney, R. T. & Leto, T. L. (1990) A HindIII polymorphism in the human NCF2 gene. Nucleic Acids Res. 18, 7193. Kenney, R. T., Malech, H. L., Epstein, N. D., Roberts, R. L. & Leto, T. L. (1993) Characterization of the p67-phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. Blood 82, 3739. Kleinberg, M. E., Mital, D., Rotrosen, D. & Malech, H. L. (1992) Characterization of a phagocyte cytrochrome b558 91-kilodalton subunit functional domain: identification of peptide sequence and amino acids essential for activity. Biochemistry 31, 2686. Knaus, U. G., Heyworth, P. G., Evans, T., Curnutte, J. T. & Bokoch, G. M. (1991) Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254, 1512. Koshkin, V. & Pick, E. (1993) Generation of superoxide by purified and relipidated cytochrome b558 in the absence of cytosolic activators. FEBS Lett. 327, 57. Kousseff, B. (1981) Linkage between chronic granulomatous disease and Duchenne's muscular dystrophy. Am. J. Dis. Child. 135, 1149. Kwong, C. H., Malech, H. L., Rotrosen, D. & Leto, T. L. (1993) Regulation of human neutrophil NADPH oxidase by rho-related G-proteins. Biochemistry 32, 5711. Leto, T. L., Lomax, K. J., Volpp, B. D., Nunoi, H., Sechler, J. M. G., Nauseef, W. M., Clark, R. A., Gallin, J. I. & Malech, H. L. (1990) Cloning of a 67-kD neutrophil oxidase factor with similarity to a non-catalytic region of p60c-src Science 248, 727. Leusen, J. H. W., de Boer, M., Bolscher, B. G. J. M., Hilarius, P. M., Weening, R. S., Ochs, H. D., Roos, D. & Verhoeven, A. J. (1994) A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67- phox. J. Clin. Invest. (in press). Lomax, K. R., Leto, T. L., Nunoi, H., Gallin, J. I. & Malech, H. L. (1989) Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease. Science 245, 409. Erratum: Science 246, 987. Malech, H. L., Huan, C-K., Renfer, L. & Rotrosen, D. (1993) Tyrosine-324 of p47-phox plays a functional role in cell-free activation of phagocyte NADPH oxidase. Clin. Res. 41, 323A. Margolis, D. M., Melnick, D. A., Ailing, D. W. & Gallin, J. I. (1990) Trimethoprim-sulfamethoxazole prophylaxis in the managment of chronic granulomatous disease. J. Infect. Dis. 162, 723. Meerhof, L. J. & Roos, D. (1986) Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J. Leukocyte Biol. 39, 699. Meier, B., Cross, A. R., Hancock, J. T., Kaup, F. J. & Jones, O. T. G. (1991) Identification of a superoxide-generating NADPH oxidase system in human fibroblasts. Biochem, J. 275, 241. Meier, B., Jesaitis, A. J., Emmendörffer, A., Roesler, J. & Quinn, M. T. (1993) The cytrochrome b558 molecules involved in the fibroblast and polymorphonuclear leucocyte superoxide-generating NADPH oxidase systems are structurally and genetically distinct. Biochem, J. 289, 481. Mizuno, T. Kaibuchi, K., Ando, S., Musha, T., Hiraoka, K., Takaishi, K., Asada, M., Nunoi, H., Matsuda, I. & Takai, Y. (1992) Regulation of the superoxide-generating NADPH oxidase by a small GTP-binding protein and its stimulatory and inhibitory GDP/GTP exchange proteins. J. Biol. Chem. 261, 10215. Mizuno, Y., Hara, T., Nakamura, M., Ueda, K., Minakami, S. & Take, H. (1988) Classification of chronic granulomatous disease on the basis of monoclonal antibody defined surface cytrochrome b deficiency. J. Pediatr. 113, 458. Mouy, R., Fischer, A., Vilmer, E., Seger, R., & Griscelli, C. (1989) Incidence, severity, and prevention of infections in chronic granulomatous disease. J. Pediatr. 114, 555. Mühlebach, T. J., Robinson, W., Seger, R. A. & Mächler, M. (1990) A second NsiI RFLP at the CYBB locus. Nucleic Acids Res. 18, 4966. Nakanishi, A., Imajoh-Ohmi, S., Fujinawa, T., Kikuchi, H. & Kanegasaki, S. (1992) Direct evidence for interaction between COOH-terminal regions of cytochrome b558 subunits and cytosolic 47-kDa protein during activation of an O−2. generating system in neutrophils. J. Biol Chem. 267, 19072. Neale, T. J., Ullrich, R., Ojha, P., Poczewski, H., Verhoeven, A. J. & Kerjaschki, D. (1993) Reactive oxygen species and neutrophil respiratory burst cytochrome b558 are produced by kidney glomerular cells in passive Heymann nephritis. Proc. Natl. Acad. Sci. USA 90, 3645. Newburger, P. E., Cohen, H. J., Rothchild, S. B., Hobbins, J. C., Malawista, S. E. & Mahoney, M. J. (1979) Prenatal diagnosis of chronic granulomatous disease. N. Engl, J. Med. 300, 178. Nunoi, H., Rotrosen, D., Gallin, J. I. & Malech, H. L. (1988) Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. Science 242, 1298. Ohno, Y., Buescher, E. S., Roberts, R., Metcalf, J, & Gallin, J. I. (1986) Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency. Blood 67, 1132. Okamura, N., Curnutte, J. T. Roberts, R. L. & Babior, B. M. (1988) Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group closely related 48-kDa proteins in two forms of chronic granulomatous disease. J. Biol Chem. 263, 6777. Orkin, S. H. (1989) Molecular genetics of chronic granulomatous disease. Ann. Rev. Immunol. 7, 227. Park, J-W. & Babior, B. M. (1992) The translocation of respiratory burst oxidase components from cytosol to plasma membrane is regulated by guanine nucleotides and diacylglycerol. J. Biol. Chem. 267, 19901. Park, J-W., Ma, M., Ruedi, J. M., Smith, R. M. & Babior, B. M. (1992) The cytosolic components of the respiratory burst oxidase exist as a Mr∼240,000 complex that acquires a membrane-binding site during activation of the oxidase in a cell-free system. J. Biol. Chem. 267, 17327. Parkos, C. A., Dinauer, M. C. Jesaitis, A. J., Orkin, S. H. & Curnutte, J. T. (1989) Absence of both 91 kD and 22 kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. Blood 73, 1416. Parkos, C. A., Dinauer, M. C., Walker, L. E., Allen, R. A., Jesaitis, A. J. & Orkin, S. A. (1988) Primary structure and unique expression of the 22 kilodalton light chain of human neutrophil cytochrome b. Proc. Natl. Acad. Sci. USA 85, 3319. Pelham, A., O'Reilly, M.-A., Malcolm, S., Levinsky, R. J. & Kinnon, C (1990) RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination. Blood 76, 820. Philips, M. R., Pillinger, M. Y., Staud, R., Volker, C., Rosenfeld, M. G., Weissmann, G. & Stock, J. B. (1993) Carboxyl methylation of Ras-related proteins during signal transduction in neutrophils. Science 259, 977. Pick, E., Kroizman, T. & Abo, A. (1989) Activation of the superoxide-forming NADPH oxidase of macrophages requires two cytosolic components - one of them is also present in certain nonphagocytic cells. J. Immunol. 143, 4180. Porter, C. D., Parkar, M. H., Collins, M. K. L., Levinsky, R. J. & Kinnon, C. (1992) Superoxide production by normal and chronic granulomatous disease (CGD) patient-derived EBV-transformed B cell lines measured by chemiluminescence-based assays. J. Immunol. Meth. 155, 151. Porter, C. D., Parkar, M. H., Levinsky, R. J., Collins, M. K. L. & Kinnon, C. (1993) X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91 phox. Blood 82, 2196. Quinn, M. T., Evans, T., Loetterle, L. R., Jesaitis, A. J. & Bokoch, G. M. (1993) Translocation of Rac correlates with NADPH oxidase activation. Evidence for equimolar translocation of oxidase components. J. Biol. Chem. 268, 20983. Quinn, M. T., Mullen, J. L. & Jesaitis, A. J. (1992) A human neutrophil cytochrome b contains multiple hemes. Evidence for heme associated with both subunits. J. Biol. Chem. 267, 7303. Quinn, M. T., Parkos, C. A. & Jesaitis, A. J. (1989) The lateral organization of components of the membrane skeleton and superoxide generation in the plasma membrane of stimulated human neutrophils. Biochim. Biophys. Acta 987, 83. Rabbani, H., de Boer, M., Åhlin, A., Sundin, U., Elinder, G., Hammarström, L., Palmblad, J., Smith, C. I. E. & Roos, D. (1993) A 40-base pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease. Eur. J. Haematol. 51, 218. Radeke, H. H., Cross, A. R., Hancock, J. T., Jones, O. T G., Nakamura, M., Kaever, V. & Resch, K. (1991) Functional expression of NADPH oxidase components (alpha and beta subunits of cytochrome b558 and 45-kDa flavoprotein) by intrinsic human glomerular mesangial cells. J. Biol. Chem. 266, 21025. Rappeport, J. M., Newburger, P. E., Goldblum, R. M., Golman, A. S., Nathan, D. G. & Parkman, R. (1982) Allogeneic bone marrow transplantation for chronic granulomatous disease. J. Pediatr. 101, 952. Roesler, J., Hecht, M., Freihorst, J., Lohmann-Matthes, M.-L. & Emmendörffer, A. (1991) Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydro-rhodamine 123 and flow microcytofluorometry. Eur. J. Pediatr 150, 161. Roos, D. (1991) The respiratory burst of phagocytic leukocytes. Drug. Invest. 3, [Suppl 2] 48. Roos, D. (1993) The molecular basis of chronic granulomatous disease. In: New Concepts in Immunodeficiency Diseases, eds. S. Gupta & C. Griscelli, p. 311. John Wiley & Sons Ltd, Chichester , England . Roos, D., de Boer, M., Borregaard, N., Bjerrum, O. W., Valerius, N. H., Seger, R. A., Mühlebach, T., Belohradsky, B. H. & Weening, R. S. (1992) Chronic granulomatous disease with partial deficiency of cytochrome b558 and incomplete respiratory burst: variants of the X-linked, cytochrome b558-negative form of the disease. J. Leukocyte Biol 51, 164. Roos, D., Voetman, A. A. & Meerhof, L. J. (1983) Functional activity of enucleated human polymorphonuclear leukocytes. J. Cell Biol. 97, 368. Roos, D, Weening, R. S., de Boer, M. & Meerhof, L. J. (1986) Heterogeneity in chronic granulomatous disease. In: Progress in Immunodeficiency Research and Therapy. II., eds. J. Vossen & C Griscelli, p. 139. Elsevier, Amsterdam . The Netherlands . Rotrosen, D., Kleinberg, M. E., Nunoi, H., Leto, T., Gallin, J. I. & Malech, H. L. (1990) Evidence for a functional domain of phagocyte oxidase cytochrome b558. J. Biol. Chem. 265, 8745. Rotrosen, D. & Leto, T. L. (1990) Phosphorylation of neutrophil 47-kDa cytosolic oxidase factor. Translocation to membrane is associated with distinct phosphorylation events. J. Biol. Chem 265, 19910. Rotrosen, D., Yeung, C. L. & Katkins, J. P. (1993) Production of recombinant cytochrome b558 allows reconstitution of the phagocyte NADPH oxidase solely from recombinant proteins. J. Biol. Chem. 268, 14256. Rotrosen, D., Yeung, C. L., Leto, T. L., Malech, H. L. & Kwong, C. H. (1992) Cytochrome b558 The flavin-binding component of the phagocyte NADPH oxidase. Science 256, 1459. Royer Pokora, B., Kunkel, L. M., Monaco, A. P, Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T. & Orkin, S. H. (1986) Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature 322, 32. Sawai, T., Asada, M., Nunoi, H., Matsuda, I., Ando, S., Sasaki, T., Kaibuchi, K., Takai, Y. & Katayama, K. (1993) Combination of arachidonic acid and guanosine 5′-O- (3′thiotriphosphate) induce translocation of roc p21s to membrane and activation of NADPH oxidase in a cell-free system. Biochem. Biophys. Res. Commun. 195, 264. Schapiro, B. L., Newburger, P. E., Klempner, M. S. & Dinauer, M. C. (1991) Chronic granulomatous disease presenting in a 69-year-old man. N. Engl, J. Med. 325, 1786. Sechler, J. M. G., Malech, H. L., White, C. J. & Gallin, J. I. (1988) Recombinant human interferon-γ reconstitutes defective phagocyte function in patients with chronic granulomatous disease of childhood. Proc. Natl. Acad. Sci. USA 85, 4874. Segal, A. W., Heyworth, P. G., Cockcroft, S. & Barrowman, M. M. (1985) Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. Nature 316, 547. Segal, A. W., West, I., Wientjes, F., Nugent, J. H. A., Chavan, A. J., Haley, B., Garcia, R. C., Rosen, H. & Scrace, G. (1992) Cytochrome b245 is a flavocytochrome containing FAD and the NADPH binding site of the microbicidal oxidase of phagocytes. Biochem, J. 284, 781. Sekhsaria, S., Gallin, J. I., Linton, G. F., Mallory, R. M., Mulligan, R. C. & Malech, H. L. (1993) Peropheral blood progenitors as a target for genetic correction of p47-phox- deficient chronic granulomatous disease. Proc. Natl. Acad. Sci. USA 90, 7446. Skalnik, D. G., Dorfman, D. M., Perkins, A. S., Jenkins, N. A., Copeland, N. G. & Orkin, S. H. (1991a) Targeting of transgene expresion to monocyte/macrophages by the gp91- phox promoter and consequent histiocytic malignancies. Proc. Natl. Acad. Sci. USA 88, 8505. Skalnik, D. G. & Neufeld, E. J. (1992) Sequence-specific binding of HMG-I(T) to the proximal promoter of the gp91-phox gene. Biochem. Biophys. Res. Commun. 187, 563. Skalnik, D. G., Strauss, E. C. & Orkin, S. H. (1991b) CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter. J. Biol. Chem. 266, 16736. Smith, R. M. & Curnutte, J. T. (1991) Molecular basis of chronic granulomatous disease. Blood 77, 673. Suminoto, H., Sakamoto, N., Nozaki, M., Sakaki, Y., Takeshige, K. & Minakami, S. (1992) Cytochrome b558, a component of the phagocyte NADPH oxidase, is a flavoprotein. Biochem. Biophys. Res. Commun. 186, 1368. Takai, Y., Kaibuchi, K., Kikuchi, A., Sasaki, T., Shirataki, H. & Tanaka, H. (1993) Requirement of prenylation of small GTP-binding proteins for their activation and functions. FASEB J 7, A1039. Taylor, W. R., Jones, D. T. & Segal, A. W. (1993) A structural model for the nucleotide binding domains of the flavocytochrome b245β-chain. Protein Science 2, 1675. Teahan, C., Rowe, P., Parker, P., Totty, N. & Segal, A. W. (1987) The X-linked chronic granulomatous disease gene codes for the beta chain of cytochrome b−245. Nature 327, 720. Thrasher, A., Chetty, M., Casimir, C. & Segal, A. W. (1992) Restoration of superoxide generation to a chronic granulomatous disease-derived B-cell tine by retrovirus mediated gene transfer. Blood 80, 1125. Tyagi, S. R., Neckelmann, N., Uhlinger, D. J., Burnham, D. N. & Lambeth, J. D. (1992) Cell-free translocation of recombinant p47-phox, a component of the neutrophil NADPH oxidase: effects of guanosine 5′-0-(3-thiotriphosphate), diacylglycerol, and an anionic amphiphile. Biochemistry 31, 2765. Uhlinger, D. J., Tyagi, S. R., Inge, K. L. & Lambeth, J. D. (1993) The respiratory burst oxidase of human neutrophils. Guanine nucleotides and arachidonate regulate the assembly of a multicomponent complex in a semirecombinant cell-free system. J. Biol. Chem. 268, 8624. Verhoeven, A. J., Bolscher, B. G. J. M., Meerhof, L. J., van Zwieten, R., Keijer, J., Weening, R. S. & Roos, D. (1989) Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils. Blood 73, 1686. Verhoeven, A. J., Leusen, J. H. W., Kessels, G. C. R., Hilarius, P. M., de Bont, D. B. A. & Liskamp, R. M. J. (1993) Inhibition of neutrophil NADPH oxidase assembly by a myristoylated pseudosubstrate of protein kinase C. J. Biol. Chem. 268, 18593. Verhoeven, A. J., van Schaik, M. L. J., Roos, D. & Weening, R. S. (1988) Detection of cariers of the autosomal form of chronic granulomatous disease. Blood 71, 505. Volkman, D. J., Buescher, E. S., Gallin, J. I. & Fauci, A. S. (1984) B cell lines as models for inherited phagocytic diseases: abnormal superoxide generation in chronic granulomaous disease and giant granules in Chediak-Higashi syndrome. J. Immunol. 133, 3006. Volpp, B. D. & Lin, Y. (1993) In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J. Clin. Invest. 91, 201. Volpp, B. D., Nauseef, W. M. & Clark, R. A. (1988) Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science 242, 1295. Volpp, B. D., Nauseef, W. M., Donelson, J. E., Moser, D. R. & Clark, R. A. (1989) Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. Proc. Nail. Acad. Sci. USA 86, 7195. Erratum: Proc. Natl. Acad. Sci. USA 86, 9563. Weening, R. S., Adriaansz, L. H., Weemaes, C. M. R., Lutter, R. & Roos, D. (1985a) Clinical differences in chronic granulomatous disease in patients with cytochrome b- negative or cytochrome b-positive neutrophils. J. Pediatr. 107, 102. Weening, R. S., Corbeel, L., de Boer, M., Lutter, R., van Zwieten, R., Hamers, M. N. & Roos, D. (1985b) Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. J. Clin. Invest. 75, 915. Weening, R. S., de Boer, M., Verhoeven, A. J. & Roos, D. (1988) Effects of gama-interferon on the respiratory burst of CGD phagocytes. Eur. J. Clin. Invest. 18, A41. Weening, R. S., Kabel, P., Pijman, P. & Roos, D. (1983) Continuous therapy with sulfamethoxazole-trimethoprim in patients with chronic granulomatous disease. J. Pediatr. 103, 127. Weening, R. S., Roos, D. & Loos, J. A. (1974) Oxygen consumption of phagozytizing cells in human leukocyte and granulocyte preparations. A comparative study. J. Lab. Clin. Med. 83, 570. Weening, R. S., Wever, R. & Roos, D. (1975) Quantitative aspects of the production of superoxide radicals by phagocytizing human granulocytes. J. Lab. Clin. Med. 85, 245. Citing Literature Volume138, Issue1April 1994Pages 121-157 ReferencesRelatedInformation

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