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Volumn 175, Issue 2, 2014, Pages 139-149

Molecular diagnosis of chronic granulomatous disease

Author keywords

CGD; DHR test; Mutation analysis; NADPH oxidase; NBT test

Indexed keywords

COTRIMOXAZOLE; HYDROGEN PEROXIDE; ITRACONAZOLE; NITROBLUE TETRAZOLIUM; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; SUPEROXIDE;

EID: 84891612200     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/cei.12202     Document Type: Article
Times cited : (122)

References (40)
  • 2
    • 0037149510 scopus 로고    scopus 로고
    • Killing activity of neutrophils is mediated through activation of proteases by K+ flux
    • Reeves EP, Lu H, Jacobs HL etal. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature 2002; 416:291-297.
    • (2002) Nature , vol.416 , pp. 291-297
    • Reeves, E.P.1    Lu, H.2    Jacobs, H.L.3
  • 3
    • 0032080869 scopus 로고    scopus 로고
    • -/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease
    • -/- mice. Implications for fungal pathogenicity and host defense in chronic granulomatous disease. J Clin Invest 1998; 101:1843-1850.
    • (1998) J Clin Invest , vol.101 , pp. 1843-1850
    • Chang, Y.C.1    Segal, B.H.2    Holland, S.M.3
  • 4
    • 0037042203 scopus 로고    scopus 로고
    • Catalase-negative Staphylococcus aureus retain virulence in mouse model of chronic granulomatous disease
    • Messina CG, Reeves EP, Roes J, Segal AW. Catalase-negative Staphylococcus aureus retain virulence in mouse model of chronic granulomatous disease. FEBS Lett 2002; 518:107-110.
    • (2002) FEBS Lett , vol.518 , pp. 107-110
    • Messina, C.G.1    Reeves, E.P.2    Roes, J.3    Segal, A.W.4
  • 5
    • 84887019423 scopus 로고    scopus 로고
    • Clinical, functional and genetic characterization of eighty-nine patients in Turkey with chronic granulomatous disease
    • Köker MY, Camcioǧlu Y, Van Leeuwen K etal. Clinical, functional and genetic characterization of eighty-nine patients in Turkey with chronic granulomatous disease. J Allergy Clin Immunol 2013; 132:1156-1163.
    • (2013) J Allergy Clin Immunol , vol.132 , pp. 1156-1163
    • Köker, M.Y.1    Camcioǧlu, Y.2    Van Leeuwen, K.3
  • 6
    • 78650918337 scopus 로고    scopus 로고
    • Residual NADPH oxidase and survival in chronic granulomatous disease
    • Kuhns DB, Alvord WG, Heller T etal. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 2010; 363:2600-2610.
    • (2010) N Engl J Med , vol.363 , pp. 2600-2610
    • Kuhns, D.B.1    Alvord, W.G.2    Heller, T.3
  • 7
    • 0029759477 scopus 로고    scopus 로고
    • Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease
    • Ho CML, Vowels MR, Lockwood L, Ziegler JB. Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease. Bone Marrow Transplant 1996; 18:213-215.
    • (1996) Bone Marrow Transplant , vol.18 , pp. 213-215
    • Ho, C.M.L.1    Vowels, M.R.2    Lockwood, L.3    Ziegler, J.B.4
  • 8
    • 0037114622 scopus 로고    scopus 로고
    • Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hematopoietic allograft: a survey of the European experience 1985-2000
    • Seger RA, Gungor T, Belohradsky BH etal. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hematopoietic allograft: a survey of the European experience 1985-2000. Blood 2002; 100:4344-4350.
    • (2002) Blood , vol.100 , pp. 4344-4350
    • Seger, R.A.1    Gungor, T.2    Belohradsky, B.H.3
  • 9
    • 84885370012 scopus 로고    scopus 로고
    • Chronic granulomatous disease - haematopoietic stem cell transplantation versus conventional treatment
    • Åhlin A, Fugeläng J, de Boer M, Ringden O, Fasth A, Winiarski J. Chronic granulomatous disease - haematopoietic stem cell transplantation versus conventional treatment. Acta Paediatr 2013; 102:1087-1094.
    • (2013) Acta Paediatr , vol.102 , pp. 1087-1094
    • Åhlin, A.1    Fugeläng, J.2    de Boer, M.3    Ringden, O.4    Fasth, A.5    Winiarski, J.6
  • 10
    • 33645734405 scopus 로고    scopus 로고
    • Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1
    • Ott MG, Schmidt M, Schwarzwälder K etal. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 2006; 12:401-409.
    • (2006) Nat Med , vol.12 , pp. 401-409
    • Ott, M.G.1    Schmidt, M.2    Schwarzwälder, K.3
  • 11
    • 12644293807 scopus 로고    scopus 로고
    • Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease
    • Malech HL, Maples PB, Whiting-Theobald N etal. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci USA 1997; 94:12133-12138.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12133-12138
    • Malech, H.L.1    Maples, P.B.2    Whiting-Theobald, N.3
  • 12
    • 0022928014 scopus 로고
    • Purification and cryopreservation of phagocytes from human blood
    • Roos D, de Boer M. Purification and cryopreservation of phagocytes from human blood. Meth Enzymol 1986; 132:225-243.
    • (1986) Meth Enzymol , vol.132 , pp. 225-243
    • Roos, D.1    de Boer, M.2
  • 13
    • 0016375453 scopus 로고
    • Oxygen consumption of phagocytizing cells in human leukocyte and granulocyte preparations: a comparative study
    • Weening RS, Roos D, Loos JA. Oxygen consumption of phagocytizing cells in human leukocyte and granulocyte preparations: a comparative study. J Lab Clin Med 1974; 83:570-577.
    • (1974) J Lab Clin Med , vol.83 , pp. 570-577
    • Weening, R.S.1    Roos, D.2    Loos, J.A.3
  • 14
    • 45549093618 scopus 로고    scopus 로고
    • Diagnostic assays for chronic granulomatous disease and other neutrophil disorders
    • Elloumi HZ, Holland SM. Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol 2007; 412:505-523.
    • (2007) Methods Mol Biol , vol.412 , pp. 505-523
    • Elloumi, H.Z.1    Holland, S.M.2
  • 15
    • 0022522125 scopus 로고
    • Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test
    • Meerhof LJ, Roos D. Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J Leukoc Biol 1986; 39:699-711.
    • (1986) J Leukoc Biol , vol.39 , pp. 699-711
    • Meerhof, L.J.1    Roos, D.2
  • 16
    • 47149099133 scopus 로고    scopus 로고
    • Remarks on the article Genetics and immunopathology of chronic granulomatous disease by Marie José Stasia and Xing Jun Li
    • Roesler J. Remarks on the article Genetics and immunopathology of chronic granulomatous disease by Marie José Stasia and Xing Jun Li. Semin Immunopathol 2008; 30:365.
    • (2008) Semin Immunopathol , vol.30 , pp. 365
    • Roesler, J.1
  • 17
    • 45549110262 scopus 로고    scopus 로고
    • Measurement of respiratory burst products generated by professional phagocytes
    • Dahlgren C, Karlsson A, Bylund J. Measurement of respiratory burst products generated by professional phagocytes. Methods Mol Biol 2007; 412:349-363.
    • (2007) Methods Mol Biol , vol.412 , pp. 349-363
    • Dahlgren, C.1    Karlsson, A.2    Bylund, J.3
  • 18
    • 0028030345 scopus 로고
    • Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions
    • Emmendörffer A, Nakamura M, Rothe G, Spiekermann K, Lohmann-Matthes M-L, Roesler J. Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions. Cytometry 1994; 18:147-155.
    • (1994) Cytometry , vol.18 , pp. 147-155
    • Emmendörffer, A.1    Nakamura, M.2    Rothe, G.3    Spiekermann, K.4    Lohmann-Matthes, M.-L.5    Roesler, J.6
  • 19
    • 0029665620 scopus 로고    scopus 로고
    • Limitations on the use of dihydrorhodamine-1,2,3 for flow cytometric analysis of the neutrophil respiratory burst
    • Van Pelt LJ, van Zwieten R, Weening RS, Roos D, Verhoeven AJ, Bolscher BG. Limitations on the use of dihydrorhodamine-1, 2, 3 for flow cytometric analysis of the neutrophil respiratory burst. J Immunol Methods 1996; 191:187-196.
    • (1996) J Immunol Methods , vol.191 , pp. 187-196
    • Van Pelt, L.J.1    van Zwieten, R.2    Weening, R.S.3    Roos, D.4    Verhoeven, A.J.5    Bolscher, B.G.6
  • 20
    • 0030045762 scopus 로고    scopus 로고
    • Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease
    • Vowells SJ, Fleisher TA, Sekhsaria S, Alling DW, Maguire TE, Malech HL. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr 1996; 128:104-107.
    • (1996) J Pediatr , vol.128 , pp. 104-107
    • Vowells, S.J.1    Fleisher, T.A.2    Sekhsaria, S.3    Alling, D.W.4    Maguire, T.E.5    Malech, H.L.6
  • 21
    • 34248342558 scopus 로고    scopus 로고
    • Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD
    • Mauch L, Lun A, O'Gorman MRG etal. Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem 2007; 53:890-896.
    • (2007) Clin Chem , vol.53 , pp. 890-896
    • Mauch, L.1    Lun, A.2    O'Gorman, M.R.G.3
  • 23
    • 70349249851 scopus 로고    scopus 로고
    • Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations
    • Köker MY, Sanal O, van Leeuwen K etal. Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. Eur J Clin Invest 2009; 39:942-951.
    • (2009) Eur J Clin Invest , vol.39 , pp. 942-951
    • Köker, M.Y.1    Sanal, O.2    van Leeuwen, K.3
  • 24
    • 70350451062 scopus 로고    scopus 로고
    • A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity
    • Matute JD, Arias AA, Wright NA etal. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 2009; 114:3309-3315.
    • (2009) Blood , vol.114 , pp. 3309-3315
    • Matute, J.D.1    Arias, A.A.2    Wright, N.A.3
  • 25
    • 12944284786 scopus 로고    scopus 로고
    • Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
    • Ambruso DR, Knall C, Abell AN etal. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 2000; 97:4654-4659.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 4654-4659
    • Ambruso, D.R.1    Knall, C.2    Abell, A.N.3
  • 26
    • 0036682976 scopus 로고    scopus 로고
    • Deletion of leucine-61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections
    • Van Bruggen R, Bautista JM, Petropoulou T etal. Deletion of leucine-61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 2002; 100:1026-1030.
    • (2002) Blood , vol.100 , pp. 1026-1030
    • Van Bruggen, R.1    Bautista, J.M.2    Petropoulou, T.3
  • 27
    • 45549092099 scopus 로고    scopus 로고
    • The reductionist approach to the study of NADPH oxidase assembly, or 'all you wanted to know about cell-free assays but did not dare to ask'
    • Molshanski-Mor S, Mizrahi A, Ugolev Y, Dahan I, Berdichevsky Y, Pick E. The reductionist approach to the study of NADPH oxidase assembly, or 'all you wanted to know about cell-free assays but did not dare to ask'. Methods Mol Biol 2007; 412:385-428.
    • (2007) Methods Mol Biol , vol.412 , pp. 385-428
    • Molshanski-Mor, S.1    Mizrahi, A.2    Ugolev, Y.3    Dahan, I.4    Berdichevsky, Y.5    Pick, E.6
  • 29
    • 0034764060 scopus 로고    scopus 로고
    • Gene-scan method for the recognition of carriers and patients with p47-phox-deficient autosomal recessive chronic granulomatous disease
    • Dekker J, de Boer M, Roos D. Gene-scan method for the recognition of carriers and patients with p47-phox-deficient autosomal recessive chronic granulomatous disease. Exp Hematol 2001; 29:1319-1325.
    • (2001) Exp Hematol , vol.29 , pp. 1319-1325
    • Dekker, J.1    de Boer, M.2    Roos, D.3
  • 30
    • 33750984791 scopus 로고    scopus 로고
    • phox component of the phagocyte NADPH oxidase
    • phox component of the phagocyte NADPH oxidase. Hum Mutat 2006; 27:1218-1229.
    • (2006) Hum Mutat , vol.27 , pp. 1218-1229
    • Roos, D.1    de Boer, M.2    Köker, M.Y.3
  • 31
    • 0032923790 scopus 로고    scopus 로고
    • Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox
    • Patiño PJ, Perez JE, Lopez JA etal. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Human Mutat 1999; 13:29-37.
    • (1999) Human Mutat , vol.13 , pp. 29-37
    • Patiño, P.J.1    Perez, J.E.2    Lopez, J.A.3
  • 32
    • 65549083114 scopus 로고    scopus 로고
    • Molecular characterization of a large cohort of patients with chronic granulomatous disease and identification of novel CYBB mutations: an Italian multicenter study
    • Di Matteo G, Giordani L, Finocchi A etal. Molecular characterization of a large cohort of patients with chronic granulomatous disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol 2009; 46:1935-1941.
    • (2009) Mol Immunol , vol.46 , pp. 1935-1941
    • Di Matteo, G.1    Giordani, L.2    Finocchi, A.3
  • 33
    • 77951732923 scopus 로고    scopus 로고
    • Rapid genetic analysis of X-linked chronic granulomatous disease by high-resolution melting
    • Hill HR, Augustine NH, Pryor RJ etal. Rapid genetic analysis of X-linked chronic granulomatous disease by high-resolution melting. J Mol Diagn 2010; 12:368-376.
    • (2010) J Mol Diagn , vol.12 , pp. 368-376
    • Hill, H.R.1    Augustine, N.H.2    Pryor, R.J.3
  • 34
    • 38949142316 scopus 로고    scopus 로고
    • Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
    • Breunis WB, van Mirre E, Bruin M etal. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 2008; 111:1029-1038.
    • (2008) Blood , vol.111 , pp. 1029-1038
    • Breunis, W.B.1    van Mirre, E.2    Bruin, M.3
  • 35
    • 51249083916 scopus 로고    scopus 로고
    • The array CGH and its clinical applications
    • Shinawi M, Cheung SW. The array CGH and its clinical applications. Drug Discov Today 2008; 13:760-770.
    • (2008) Drug Discov Today , vol.13 , pp. 760-770
    • Shinawi, M.1    Cheung, S.W.2
  • 36
    • 84863980616 scopus 로고    scopus 로고
    • Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families
    • Stasia MJ, van Leeuwen K, de Boer M etal. Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. J Clin Immunol 2012; 32:653-662.
    • (2012) J Clin Immunol , vol.32 , pp. 653-662
    • Stasia, M.J.1    van Leeuwen, K.2    de Boer, M.3
  • 37
    • 84884592722 scopus 로고    scopus 로고
    • Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease
    • Stasia MJ, Mollin M, Martel C etal. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease. Eur J Hum Genet 2013; 21:1079-1084.
    • (2013) Eur J Hum Genet , vol.21 , pp. 1079-1084
    • Stasia, M.J.1    Mollin, M.2    Martel, C.3
  • 39
    • 0026671756 scopus 로고
    • Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction
    • De Boer M, Bolscher BGJM, Sijmons RH, Scheffer H, Weening RS, Roos D. Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenat Diagn 1992; 12:773-777.
    • (1992) Prenat Diagn , vol.12 , pp. 773-777
    • De Boer, M.1    Bolscher, B.G.J.M.2    Sijmons, R.H.3    Scheffer, H.4    Weening, R.S.5    Roos, D.6
  • 40
    • 0036126082 scopus 로고    scopus 로고
    • Prenatal diagnosis in two families with autosomal, p47-phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1
    • De Boer M, Singh V, Dekker J, Di Rocco M, Goldblatt D, Roos D. Prenatal diagnosis in two families with autosomal, p47-phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1. Prenat Diagn 2002; 22:235-240.
    • (2002) Prenat Diagn , vol.22 , pp. 235-240
    • De Boer, M.1    Singh, V.2    Dekker, J.3    Di Rocco, M.4    Goldblatt, D.5    Roos, D.6


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