메뉴 건너뛰기




Volumn 103, Issue 9, 2004, Pages 3355-3361

Kostmann syndrome: Severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells

Author keywords

[No Author keywords available]

Indexed keywords

CD32 ANTIGEN; CD34 ANTIGEN; CYTOCHROME C; GRANULOCYTE COLONY STIMULATING FACTOR; PROTEIN BCL 2;

EID: 1942521610     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-04-1011     Document Type: Article
Times cited : (76)

References (33)
  • 1
    • 0002814341 scopus 로고
    • Infantile genetic agranulocytosis: A new recessive lethal disease in man
    • Kostmann R. Infantile genetic agranulocytosis: a new recessive lethal disease in man. Acta Paediatr Scand. 1956;105:1-78.
    • (1956) Acta Paediatr Scand , vol.105 , pp. 1-78
    • Kostmann, R.1
  • 2
    • 0016612028 scopus 로고
    • Infantile genetic agranulocytosis: A review with presentation of ten new cases
    • Kostmann R. Infantile genetic agranulocytosis: a review with presentation of ten new cases. Acta Paediatr Scand. 1975;64:362-368.
    • (1975) Acta Paediatr Scand , vol.64 , pp. 362-368
    • Kostmann, R.1
  • 4
    • 0034899047 scopus 로고    scopus 로고
    • Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
    • Carlsson G, Fasth A, Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review. Acta Paediatr. 2001;90:757-764.
    • (2001) Acta Paediatr , vol.90 , pp. 757-764
    • Carlsson, G.1    Fasth, A.2
  • 6
    • 0033972915 scopus 로고    scopus 로고
    • Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors
    • Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC. Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood. 2000;95:320-327.
    • (2000) Blood , vol.95 , pp. 320-327
    • Aprikyan, A.A.1    Liles, W.C.2    Park, J.R.3    Jonas, M.4    Chi, E.Y.5    Dale, D.C.6
  • 7
    • 0035161158 scopus 로고    scopus 로고
    • Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia
    • Aprikyan AA, Liles WC, Rodger E, Jonas M, Chi EY, Dale DC. Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood. 2001;97:147-153.
    • (2001) Blood , vol.97 , pp. 147-153
    • Aprikyan, A.A.1    Liles, W.C.2    Rodger, E.3    Jonas, M.4    Chi, E.Y.5    Dale, D.C.6
  • 8
    • 0028930939 scopus 로고
    • Simultaneous assessment of cell kinetics and programmed cell death in bone marrow biopsies of myelodysplastics reveals extensive apoptosis as the probable basis for ineffective hematopoiesis
    • Raza A, Mundle S, Iftikhar A, et al. Simultaneous assessment of cell kinetics and programmed cell death in bone marrow biopsies of myelodysplastics reveals extensive apoptosis as the probable basis for ineffective hematopoiesis. Am J Hematol. 1995;48:143-154.
    • (1995) Am J Hematol , vol.48 , pp. 143-154
    • Raza, A.1    Mundle, S.2    Iftikhar, A.3
  • 9
    • 18344401654 scopus 로고    scopus 로고
    • Morphological changes and apoptosis in bone marrow from patients with myelodysplastic syndromes treated with granulocyte-CSF and erythropoietin
    • Hellström-Lindberg E, Kanter-Lewensohn L, Öst Å. Morphological changes and apoptosis in bone marrow from patients with myelodysplastic syndromes treated with granulocyte-CSF and erythropoietin. Leuk Res. 1997;21:415-425.
    • (1997) Leuk Res , vol.21 , pp. 415-425
    • Hellström-Lindberg, E.1    Kanter-Lewensohn, L.2    Öst, Å.3
  • 10
    • 0029025441 scopus 로고
    • Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
    • Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81:935-946.
    • (1995) Cell , vol.81 , pp. 935-946
    • Fisher, G.H.1    Rosenberg, F.J.2    Straus, S.E.3
  • 11
    • 0029006893 scopus 로고
    • Mutations in Fas associated with human lymphoproliferative syndrome
    • Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome. Science. 1995;268:1347-1349.
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1    Le Deist, F.2    Hivroz, C.3
  • 13
    • 0032842491 scopus 로고    scopus 로고
    • Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients
    • Fadeel B, Orrenius S, Henter J-I. Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients. Br J Haematol. 1999;106:406-415.
    • (1999) Br J Haematol , vol.106 , pp. 406-415
    • Fadeel, B.1    Orrenius, S.2    Henter, J.-I.3
  • 14
    • 0036305303 scopus 로고    scopus 로고
    • Surface antigen changes during normal neutrophilic development: A critical review
    • Elgehetany MT. Surface antigen changes during normal neutrophilic development: a critical review. Blood Cells Mol Dis. 2002;28:260-274.
    • (2002) Blood Cells Mol Dis , vol.28 , pp. 260-274
    • Elgehetany, M.T.1
  • 15
    • 0037307728 scopus 로고    scopus 로고
    • Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors
    • Tehranchi R, Fadeel B, Forsblom AM, et al. Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. Blood. 2003;101:1080-1086.
    • (2003) Blood , vol.101 , pp. 1080-1086
    • Tehranchi, R.1    Fadeel, B.2    Forsblom, A.M.3
  • 16
    • 0031918223 scopus 로고    scopus 로고
    • BCL-2 family: Regulators of cell death
    • Chao DT, Korsmeyer SJ. BCL-2 family: regulators of cell death. Annu Rev Immunol. 1998;16:395-419.
    • (1998) Annu Rev Immunol , vol.16 , pp. 395-419
    • Chao, D.T.1    Korsmeyer, S.J.2
  • 17
    • 0032863163 scopus 로고    scopus 로고
    • All along the watchtower: On the regulation of apoptosis regulators
    • Fadeel B, Zhivotovsky B, Orrenius S. All along the watchtower: on the regulation of apoptosis regulators. FASEB J. 1999;13:1647-1657.
    • (1999) FASEB J , vol.13 , pp. 1647-1657
    • Fadeel, B.1    Zhivotovsky, B.2    Orrenius, S.3
  • 18
    • 0033908043 scopus 로고    scopus 로고
    • The most unkindest cut of all: On the multiple roles of mammalian caspases
    • Fadeel B, Orrenius S, Zhivotovsky B. The most unkindest cut of all: on the multiple roles of mammalian caspases. Leukemia. 2000;14:1514-1525.
    • (2000) Leukemia , vol.14 , pp. 1514-1525
    • Fadeel, B.1    Orrenius, S.2    Zhivotovsky, B.3
  • 19
    • 0034641918 scopus 로고    scopus 로고
    • The biochemistry of apoptosis
    • Hengartner MO. The biochemistry of apoptosis. Nature. 2000;407:770-776.
    • (2000) Nature , vol.407 , pp. 770-776
    • Hengartner, M.O.1
  • 20
    • 0034068601 scopus 로고    scopus 로고
    • Mitochondrial control of cell death
    • Kroemer G, Reed JC. Mitochondrial control of cell death. Nat Med. 2000;6:513-519.
    • (2000) Nat Med , vol.6 , pp. 513-519
    • Kroemer, G.1    Reed, J.C.2
  • 21
    • 0025091773 scopus 로고
    • Haemopoietic colony stimulating factors promote cell survival by suppressing apoptosis
    • Williams GT, Smith CA, Spooncer E, Dexter TM, Taylor DR. Haemopoietic colony stimulating factors promote cell survival by suppressing apoptosis. Nature. 1990;343:76-79.
    • (1990) Nature , vol.343 , pp. 76-79
    • Williams, G.T.1    Smith, C.A.2    Spooncer, E.3    Dexter, T.M.4    Taylor, D.R.5
  • 22
    • 0026795415 scopus 로고
    • Modulation of granulocyte survival and programmed cell death by cytokines and bacterial products
    • Colotta F, Re F, Polentarutti N, Sozzani S, Mantovani A. Modulation of granulocyte survival and programmed cell death by cytokines and bacterial products. Blood. 1992;80:2012-2020.
    • (1992) Blood , vol.80 , pp. 2012-2020
    • Colotta, F.1    Re, F.2    Polentarutti, N.3    Sozzani, S.4    Mantovani, A.5
  • 23
    • 0026448779 scopus 로고
    • Prolongation of survival of human polymorphonuclear neutrophils by granulocyte-macrophage colony-stimulating factor is caused by inhibition of programmed cell death
    • Brach MA, de Vos S, Gruss HJ, Herrmann F. Prolongation of survival of human polymorphonuclear neutrophils by granulocyte-macrophage colony-stimulating factor is caused by inhibition of programmed cell death. Blood. 1992;80:2920-2924.
    • (1992) Blood , vol.80 , pp. 2920-2924
    • Brach, M.A.1    De Vos, S.2    Gruss, H.J.3    Herrmann, F.4
  • 24
    • 0035013475 scopus 로고    scopus 로고
    • Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts
    • Schmidt-Mende J, Tehranchi R, Forsblom AM, et al. Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts. Leukemia. 2001;15:742-751.
    • (2001) Leukemia , vol.15 , pp. 742-751
    • Schmidt-Mende, J.1    Tehranchi, R.2    Forsblom, A.M.3
  • 25
    • 0033866047 scopus 로고    scopus 로고
    • Differential expression of bcl-2 homologs in human CD34+ hematopoietic progenitor cells induced to differentiate into erythroid or granulocytic cells
    • Josefsen D, Myklebust JH, Lomo J, Sioud M, Blomhoff HK, Smeland EB. Differential expression of bcl-2 homologs in human CD34+ hematopoietic progenitor cells induced to differentiate into erythroid or granulocytic cells. Stem Cells. 2000;18:261-272.
    • (2000) Stem Cells , vol.18 , pp. 261-272
    • Josefsen, D.1    Myklebust, J.H.2    Lomo, J.3    Sioud, M.4    Blomhoff, H.K.5    Smeland, E.B.6
  • 26
    • 0028017574 scopus 로고
    • Differential expression of Bcl-2 and susceptibility to anti-Fas-mediated cell death in peripheral blood lymphocytes, monocytes, and neutrophils
    • Iwai K, Miyawaki T, Takizawa T, et al. Differential expression of Bcl-2 and susceptibility to anti-Fas-mediated cell death in peripheral blood lymphocytes, monocytes, and neutrophils. Blood. 1994;84:1201-1208.
    • (1994) Blood , vol.84 , pp. 1201-1208
    • Iwai, K.1    Miyawaki, T.2    Takizawa, T.3
  • 27
    • 0028817069 scopus 로고
    • Regulation and function of Bcl-2 during differentiation-induced cell death in HL-60 promyelocytic cells
    • Benito A, Grillot D, Nunez G, Fernandez-Luna JL. Regulation and function of Bcl-2 during differentiation-induced cell death in HL-60 promyelocytic cells. Am J Pathol. 1995;146:481-490.
    • (1995) Am J Pathol , vol.146 , pp. 481-490
    • Benito, A.1    Grillot, D.2    Nunez, G.3    Fernandez-Luna, J.L.4
  • 28
    • 0032757863 scopus 로고    scopus 로고
    • Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
    • Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433-436.
    • (1999) Nat Genet , vol.23 , pp. 433-436
    • Horwitz, M.1    Benson, K.F.2    Person, R.E.3    Aprikyan, A.G.4    Dale, D.C.5
  • 29
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3
  • 30
    • 0035525791 scopus 로고    scopus 로고
    • Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease
    • Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001;98:2645-2650.
    • (2001) Blood , vol.98 , pp. 2645-2650
    • Ancliff, P.J.1    Gale, R.E.2    Liesner, R.3    Hann, I.M.4    Linch, D.C.5
  • 31
    • 0037370710 scopus 로고    scopus 로고
    • Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: Implications for the regulation of granulopoiesis
    • El Ouriaghli F, Fujiwara H, Melenhorst JJ, Sconocchia G, Hensel N, Barrett AJ. Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. Blood. 2003;101:1752-1758.
    • (2003) Blood , vol.101 , pp. 1752-1758
    • El Ouriaghli, F.1    Fujiwara, H.2    Melenhorst, J.J.3    Sconocchia, G.4    Hensel, N.5    Barrett, A.J.6
  • 32
    • 0035479832 scopus 로고    scopus 로고
    • Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia
    • Aprikyan AAG, Dale DC. Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia. Curr Opin Immunol. 2001;13:535-538.
    • (2001) Curr Opin Immunol , vol.13 , pp. 535-538
    • Aprikyan, A.A.G.1    Dale, D.C.2
  • 33
    • 0037215566 scopus 로고    scopus 로고
    • Role of neutrophil elastase in bone marrow failure syndromes: Molecular genetic revival of the chalone hypothesis
    • Horwitz M, Benson KF, Duan Z, et al. Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis. Curr Opin Hematol. 2003;10:49-54.
    • (2003) Curr Opin Hematol , vol.10 , pp. 49-54
    • Horwitz, M.1    Benson, K.F.2    Duan, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.