메뉴 건너뛰기




Volumn 34, Issue 1, 2014, Pages 58-67

Chronic granulomatous disease: Two decades of experience from a tertiary care centre in North West India

Author keywords

Chronic granulomatous disease; CYBB gene; dihydrorhodamine; NADPH oxidase; NCF 1 gene

Indexed keywords

COTRIMOXAZOLE; CYTOCHROME B 245 BETA POLYPEPTIDE; DIHYDRORHODAMINE 123; ITRACONAZOLE; KETOCONAZOLE; NEUTROPHIL CYTOSOLIC FACTOR 1; NITROBLUE TETRAZOLIUM; PROTEIN; UNCLASSIFIED DRUG; VORICONAZOLE;

EID: 84896721647     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9963-5     Document Type: Article
Times cited : (45)

References (37)
  • 1
    • 0034040532 scopus 로고    scopus 로고
    • Chronic granulomatous disease. Report on a national registry of 368 patients
    • 1:STN:280:DC%2BD3czgtlemtg%3D%3D 10.1097/00005792-200005000-00003
    • Winkelstein JA, Marino MC, Johnston Jr RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155-69.
    • (2000) Medicine (Baltimore) , vol.79 , Issue.3 , pp. 155-169
    • Winkelstein, J.A.1    Marino, M.C.2    Johnston, Jr.R.B.3    Boyle, J.4    Curnutte, J.5    Gallin, J.I.6
  • 2
    • 0001034048 scopus 로고
    • Hypergammaglobulinemia associated with severe, recurrent, and chronic non-specific infection
    • Janeway CACJ, Davidson M, Downey W, Gitlin D, Sullivan JC. Hypergammaglobulinemia associated with severe, recurrent, and chronic non-specific infection. Am J Dis Child. 1954;88:388-92.
    • (1954) Am J Dis Child , vol.88 , pp. 388-392
    • Janeway, C.1    Davidson, M.2    Downey, W.3    Gitlin, D.4    Sullivan, J.C.5
  • 3
    • 70449140148 scopus 로고
    • A fatal granulomatosus of childhood: The clinical study of a new syndrome
    • 1:STN:280:DyaG2s%2FnslajsQ%3D%3D 13430573
    • Berendes H, Bridges RA, Good RA. A fatal granulomatosus of childhood: the clinical study of a new syndrome. Minn Med. 1957;40(5):309-12.
    • (1957) Minn Med , vol.40 , Issue.5 , pp. 309-312
    • Berendes, H.1    Bridges, R.A.2    Good, R.A.3
  • 4
    • 70449235654 scopus 로고
    • A fatal granulomatous disease of childhood; The clinical, pathological, and laboratory features of a new syndrome
    • 1:STN:280:DyaG1M%2Fms1aqug%3D%3D 10.1001/archpedi.1959.02070010389004
    • Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. Am J Dis Child. 1959;97(4):387-408.
    • (1959) Am J Dis Child , vol.97 , Issue.4 , pp. 387-408
    • Bridges, R.A.1    Berendes, H.2    Good, R.A.3
  • 5
    • 84856221307 scopus 로고    scopus 로고
    • Inflammation and repeated infections in CGD: Two sides of a coin
    • Jan
    • Kuijpers T, Lutter R. Inflammation and repeated infections in CGD: two sides of a coin. Cell Mol Life Sci. Jan;69(1):7-15.
    • Cell Mol Life Sci. , vol.69 , Issue.1 , pp. 7-15
    • Kuijpers, T.1    Lutter, R.2
  • 6
    • 33749047437 scopus 로고    scopus 로고
    • Localizing NADPH oxidase-derived ROS
    • 16926363
    • Ushio-Fukai M. Localizing NADPH oxidase-derived ROS. Sci STKE. 2006;2006(349):re8.
    • (2006) Sci STKE , vol.2006 , Issue.349 , pp. 8
    • Ushio-Fukai, M.1
  • 7
    • 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
    • 1:CAS:528:DC%2BD1MXhtlShtbbM 19692703 10.1182/blood-2009-07-231498
    • Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, et al. 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(15):3309-15.
    • (2009) Blood , vol.114 , Issue.15 , pp. 3309-3315
    • Matute, J.D.1    Arias, A.A.2    Wright, N.A.3    Wrobel, I.4    Waterhouse, C.C.5    Li, X.J.6
  • 8
    • 0014682652 scopus 로고
    • Nitroblue-tetrazolium test in children with fatal granulomatous disease and newborn infants
    • 1:STN:280:DyaF1M%2Fns1Glsg%3D%3D 4178273 10.1016/S0140-6736(69)91172-6
    • Park BH, Holmes BM, Rodey GE, Good RA. Nitroblue-tetrazolium test in children with fatal granulomatous disease and newborn infants. Lancet. 1969;1(7586):157.
    • (1969) Lancet , vol.1 , Issue.7586 , pp. 157
    • Park, B.H.1    Holmes, B.M.2    Rodey, G.E.3    Good, R.A.4
  • 9
    • 0014400858 scopus 로고
    • Quantitative nitroblue tetrazolium test in chronic granulomatous disease
    • 1:STN:280:DyaF1c7ptl2rug%3D%3D 4384563 10.1056/NEJM196805022781801
    • Baehner RL, Nathan DG. Quantitative nitroblue tetrazolium test in chronic granulomatous disease. N Engl J Med. 1968;278(18):971-6.
    • (1968) N Engl J Med , vol.278 , Issue.18 , pp. 971-976
    • Baehner, R.L.1    Nathan, D.G.2
  • 10
    • 0025294129 scopus 로고
    • A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123
    • 1:STN:280:DyaK3czmtF2htg%3D%3D 2391431 10.1016/0022-1759(90)90198-5
    • Emmendorffer A, Hecht M, Lohmann-Matthes ML, Roesler J. A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123. J Immunol Methods. 1990;131(2):269-75.
    • (1990) J Immunol Methods , vol.131 , Issue.2 , pp. 269-275
    • Emmendorffer, A.1    Hecht, M.2    Lohmann-Matthes, M.L.3    Roesler, J.4
  • 11
    • 0025962123 scopus 로고
    • Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry
    • 1:STN:280:DyaK3M3lslSmtQ%3D%3D 2044584 10.1007/BF01963557
    • Roesler J, Hecht M, Freihorst J, Lohmann-Matthes ML, Emmendorffer A. Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry. Eur J Pediatr. 1991;150(3):161-5.
    • (1991) Eur J Pediatr , vol.150 , Issue.3 , pp. 161-165
    • Roesler, J.1    Hecht, M.2    Freihorst, J.3    Lohmann-Matthes, M.L.4    Emmendorffer, A.5
  • 14
    • 55849097704 scopus 로고    scopus 로고
    • A 24-year-old man with giddiness, hemoptysis, and skin lesions
    • 18988785 10.1378/chest.08-0393
    • Pinto LM, Udwadia ZF. A 24-year-old man with giddiness, hemoptysis, and skin lesions. Chest. 2008;134(5):1084-7.
    • (2008) Chest , vol.134 , Issue.5 , pp. 1084-1087
    • Pinto, L.M.1    Udwadia, Z.F.2
  • 16
    • 44649195074 scopus 로고    scopus 로고
    • Spectrum of primary immune deficiency at a tertiary care hospital
    • 18334795 10.1007/s12098-008-0022-9
    • Verma S, Sharma PK, Sivanandan S, Rana N, Saini S, Lodha R, et al. Spectrum of primary immune deficiency at a tertiary care hospital. Indian J Pediatr. 2008;75(2):143-8.
    • (2008) Indian J Pediatr , vol.75 , Issue.2 , pp. 143-148
    • Verma, S.1    Sharma, P.K.2    Sivanandan, S.3    Rana, N.4    Saini, S.5    Lodha, R.6
  • 17
    • 0029565532 scopus 로고
    • Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden
    • 1:STN:280:DyaK283htVCjsQ%3D%3D 8645957 10.1111/j.1651-2227.1995.tb13575.x
    • Ahlin A, De Boer M, Roos D, Leusen J, Smith CI, Sundin U, et al. Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden. Acta Paediatr. 1995;84(12):1386-94.
    • (1995) Acta Paediatr , vol.84 , Issue.12 , pp. 1386-1394
    • Ahlin, A.1    De Boer, M.2    Roos, D.3    Leusen, J.4    Smith, C.I.5    Sundin, U.6
  • 18
    • 0033739697 scopus 로고    scopus 로고
    • Long-term follow-up and outcome of 39 patients with chronic granulomatous disease
    • 1:STN:280:DC%2BD3M%2FltVSgsg%3D%3D 11060536 10.1067/mpd.2000.109112
    • Liese J, Kloos S, Jendrossek V, Petropoulou T, Wintergerst U, Notheis G, et al. Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J Pediatr. 2000;137(5):687-93.
    • (2000) J Pediatr , vol.137 , Issue.5 , pp. 687-693
    • Liese, J.1    Kloos, S.2    Jendrossek, V.3    Petropoulou, T.4    Wintergerst, U.5    Notheis, G.6
  • 20
    • 33749047901 scopus 로고    scopus 로고
    • Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia
    • 16937026 10.1007/s10038-006-0039-8
    • El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, et al. Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. J Hum Genet. 2006;51(10):887-95.
    • (2006) J Hum Genet , vol.51 , Issue.10 , pp. 887-895
    • El Kares, R.1    Barbouche, M.R.2    Elloumi-Zghal, H.3    Bejaoui, M.4    Chemli, J.5    Mellouli, F.6
  • 21
    • 70349472875 scopus 로고    scopus 로고
    • Reconstructing Indian population history
    • 1:CAS:528:DC%2BD1MXhtFOitrnE 2842210 19779445 10.1038/nature08365
    • Reich D, Thangaraj K, Patterson N, Price AL, Singh L. Reconstructing Indian population history. Nature. 2009;461(7263):489-94.
    • (2009) Nature , vol.461 , Issue.7263 , pp. 489-494
    • Reich, D.1    Thangaraj, K.2    Patterson, N.3    Price, A.L.4    Singh, L.5
  • 22
    • 37849008955 scopus 로고    scopus 로고
    • Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study
    • 1:CAS:528:DC%2BD1cXlsFKmtQ%3D%3D 18037347 10.1016/j.clim.2007.09.008
    • Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol. 2008;126(2):155-64.
    • (2008) Clin Immunol , vol.126 , Issue.2 , pp. 155-164
    • Martire, B.1    Rondelli, R.2    Soresina, A.3    Pignata, C.4    Broccoletti, T.5    Finocchi, A.6
  • 24
    • 0025029676 scopus 로고
    • Prognosis of chronic granulomatous disease
    • 1:STN:280:DyaK3M%2FisVaktQ%3D%3D 2221966 10.1136/adc.65.9.942
    • Finn A, Hadzic N, Morgan G, Strobel S, Levinsky RJ. Prognosis of chronic granulomatous disease. Arch Dis Child. 1990;65(9):942-5.
    • (1990) Arch Dis Child , vol.65 , Issue.9 , pp. 942-945
    • Finn, A.1    Hadzic, N.2    Morgan, G.3    Strobel, S.4    Levinsky, R.J.5
  • 25
    • 62449173145 scopus 로고    scopus 로고
    • Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant
    • 19058215 10.1002/pbc.21851
    • van Montfrans JM, Rudd E, van de Corput L, Henter JI, Nikkels P, Wulffraat N, et al. Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant. Pediatr Blood Cancer. 2009;52(4):527-9.
    • (2009) Pediatr Blood Cancer , vol.52 , Issue.4 , pp. 527-529
    • Van Montfrans, J.M.1    Rudd, E.2    Van De Corput, L.3    Henter, J.I.4    Nikkels, P.5    Wulffraat, N.6
  • 26
    • 78651111852 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease
    • Mar
    • Parekh C, Hofstra T, Church JA, Coates TD. Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease. Pediatr Blood Cancer. Mar;56(3):460-2.
    • Pediatr Blood Cancer , vol.56 , Issue.3 , pp. 460-462
    • Parekh, C.1    Hofstra, T.2    Church, J.A.3    Coates, T.D.4
  • 28
    • 44949109341 scopus 로고    scopus 로고
    • Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: A review of 17 patients living in a region endemic for tuberculosis
    • 18277931 10.1097/INF.0b013e31815b494c
    • Lee PP, Chan KW, Jiang L, Chen T, Li C, Lee TL, et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr Infect Dis J. 2008;27(3):224-30.
    • (2008) Pediatr Infect Dis J , vol.27 , Issue.3 , pp. 224-230
    • Lee, P.P.1    Chan, K.W.2    Jiang, L.3    Chen, T.4    Li, C.5    Lee, T.L.6
  • 30
    • 79951647077 scopus 로고    scopus 로고
    • Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
    • Mar
    • Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. Mar;12(3):213-21.
    • Nat Immunol. , vol.12 , Issue.3 , pp. 213-221
    • Bustamante, J.1    Arias, A.A.2    Vogt, G.3    Picard, C.4    Galicia, L.B.5    Prando, C.6
  • 31
    • 0032881244 scopus 로고    scopus 로고
    • Chronic granulomatous disease in Japan: Incidence and natural history. The Study Group of Phagocyte Disorders of Japan
    • 1:STN:280:DyaK1MvlvFKguw%3D%3D 10530081 10.1046/j.1442-200x.1999.01129.x
    • Hasui M. Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan. Pediatr Int. 1999;41(5):589-93.
    • (1999) Pediatr Int , vol.41 , Issue.5 , pp. 589-593
    • Hasui, M.1
  • 32
    • 0024580896 scopus 로고
    • Incidence, severity, and prevention of infections in chronic granulomatous disease
    • 1:STN:280:DyaL1M7nslyjtQ%3D%3D 2784499 10.1016/S0022-3476(89)80693-6
    • Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C. Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr. 1989;114(4 Pt 1):555-60.
    • (1989) J Pediatr , vol.114 , Issue.4 PART 1 , pp. 555-560
    • Mouy, R.1    Fischer, A.2    Vilmer, E.3    Seger, R.4    Griscelli, C.5
  • 33
    • 77956879800 scopus 로고    scopus 로고
    • Hematologically important mutations: X-linked chronic granulomatous disease (third update)
    • Oct 15
    • Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis. Oct 15;45(3):246-65.
    • Blood Cells Mol Dis. , vol.45 , Issue.3 , pp. 246-265
    • Roos, D.1    Kuhns, D.B.2    Maddalena, A.3    Roesler, J.4    Lopez, J.A.5    Ariga, T.6
  • 34
    • 77950299675 scopus 로고    scopus 로고
    • Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
    • Apr 15
    • Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. Apr 15;44(4):291-9.
    • Blood Cells Mol Dis. , vol.44 , Issue.4 , pp. 291-299
    • Roos, D.1    Kuhns, D.B.2    Maddalena, A.3    Bustamante, J.4    Kannengiesser, C.5    De Boer, M.6
  • 35
    • 0025727361 scopus 로고
    • Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat
    • 1:CAS:528:DyaK3MXkt1ensbg%3D 51317 2011585 10.1073/pnas.88.7.2753
    • Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci U S A. 1991;88(7):2753-7.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , Issue.7 , pp. 2753-2757
    • Casimir, C.M.1    Bu-Ghanim, H.N.2    Rodaway, A.R.3    Bentley, D.L.4    Rowe, P.5    Segal, A.W.6
  • 36
    • 0040945789 scopus 로고    scopus 로고
    • A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
    • 1:CAS:528:DyaK2sXmslKktLY%3D 508379 9329953 10.1172/JCI119721
    • Gorlach A, Lee PL, Roesler J, Hopkins PJ, Christensen B, Green ED, et al. A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. J Clin Invest. 1997;100(8):1907-18.
    • (1997) J Clin Invest , vol.100 , Issue.8 , pp. 1907-1918
    • Gorlach, A.1    Lee, P.L.2    Roesler, J.3    Hopkins, P.J.4    Christensen, B.5    Green, E.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.