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Volumn 23, Issue 1, 2011, Pages 21-26

Genetic etiologies of severe congenital neutropenia

Author keywords

congenital; G6PC3; HAX1; neutropenia

Indexed keywords

LEUKOCYTE ELASTASE; TRANSCRIPTION FACTOR;

EID: 78751624551     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32834262f8     Document Type: Article
Times cited : (51)

References (34)
  • 1
    • 59249102648 scopus 로고    scopus 로고
    • Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene
    • Reich D, Nalls MA, Kao WH, et al. Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet 2009; 5:e1000360
    • (2009) PLoS Genet , vol.5
    • Reich, D.1    Nalls, M.A.2    Kao, W.H.3
  • 2
    • 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
  • 3
    • 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, et al. 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
  • 4
    • 33847395071 scopus 로고    scopus 로고
    • Neutrophil elastase in cyclic and severe congenital neutropenia
    • Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007; 109:1817-1824.
    • (2007) Blood , vol.109 , pp. 1817-1824
    • Horwitz, M.S.1    Duan, Z.2    Korkmaz, B.3
  • 5
    • 34250899722 scopus 로고    scopus 로고
    • Signal integration in the endoplasmic reticulum unfolded protein response
    • Ron D, Walter P. Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol 2007; 8:519-529.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 519-529
    • Ron, D.1    Walter, P.2
  • 6
    • 36549023532 scopus 로고    scopus 로고
    • Severe congenital neutropenia and the unfolded protein response
    • Xia J, Link DC. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 2008; 15:1-7.
    • (2008) Curr Opin Hematol , vol.15 , pp. 1-7
    • Xia, J.1    Link, D.C.2
  • 7
    • 0037244284 scopus 로고    scopus 로고
    • Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation
    • Hock H, Hamblen MJ, Rooke HM, et al. Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity 2003; 18:109-120.
    • (2003) Immunity , vol.18 , pp. 109-120
    • Hock, H.1    Hamblen, M.J.2    Rooke, H.M.3
  • 8
    • 20444466497 scopus 로고    scopus 로고
    • The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function
    • Rathinam C, Geffers R, Yucel R, et al. The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function. Immunity 2005; 22:717-728.
    • (2005) Immunity , vol.22 , pp. 717-728
    • Rathinam, C.1    Geffers, R.2    Yucel, R.3
  • 9
    • 0038757823 scopus 로고    scopus 로고
    • Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
    • Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003; 34:308-312.
    • (2003) Nat Genet , vol.34 , pp. 308-312
    • Person, R.E.1    Li, F.Q.2    Duan, Z.3
  • 10
    • 77956300986 scopus 로고    scopus 로고
    • Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1 a transcriptional regulator of ELANE
    • Armistead PM, Wieder E, Akande O, et al. Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. Br J Haematol 2010; 150:716-719.
    • (2010) Br J Haematol , vol.150 , pp. 716-719
    • Armistead, P.M.1    Wieder, E.2    Akande, O.3
  • 11
    • 33845904894 scopus 로고    scopus 로고
    • HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
    • Klein C,GrudzienM, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92.
    • (2007) Nat Genet , vol.39 , pp. 86-92
    • Cgrudzienm, K.1    Appaswamy, G.2
  • 12
    • 42049117271 scopus 로고    scopus 로고
    • Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype- phenotype associations
    • Germeshausen M, Grudzien M, Zeidler C, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype- phenotype associations. Blood 2008; 111:4954-4957.
    • (2008) Blood , vol.111 , pp. 4954-4957
    • Germeshausen, M.1    Grudzien, M.2    Zeidler, C.3
  • 13
    • 40449124712 scopus 로고    scopus 로고
    • Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons
    • Chao JR, Parganas E, Boyd K, et al. Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons. Nature 2008; 452:98-102.
    • (2008) Nature , vol.452 , pp. 98-102
    • Chao, J.R.1    Parganas, E.2    Boyd, K.3
  • 14
    • 77954595054 scopus 로고    scopus 로고
    • Deregulation of mitochondrial membrane potential by mitochondrial insertion of granzyme B and direct Hax-1 cleavage
    • Han J, Goldstein LA, Hou W, et al. Deregulation of mitochondrial membrane potential by mitochondrial insertion of granzyme B and direct Hax-1 cleavage. J Biol Chem 2010; 285:22461-22472.
    • (2010) J Biol Chem , vol.285 , pp. 22461-22472
    • Han, J.1    Goldstein, L.A.2    Hou, W.3
  • 15
    • 0031448837 scopus 로고    scopus 로고
    • Sequence of a putative glucose 6- phosphate translocase, mutated in glycogen storage disease type Ib
    • Gerin I, Veiga-da-Cunha M, Achouri Y, et al. Sequence of a putative glucose 6- phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 1997; 419:235-238.
    • (1997) FEBS Lett , vol.419 , pp. 235-238
    • Gerin, I.1    Veiga-Da-Cunha, M.2    Achouri, Y.3
  • 16
    • 58249089770 scopus 로고    scopus 로고
    • A syndrome with congenital neutropenia and mutations in G6PC3
    • Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360:32-43.
    • (2009) N Engl J Med , vol.360 , pp. 32-43
    • Boztug, K.1    Appaswamy, G.2    Ashikov, A.3
  • 17
    • 85028120628 scopus 로고    scopus 로고
    • Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    • Epub ahead of print
    • Banka S, Chervinsky E, Newman WG, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet 2010. [Epub ahead of print]
    • (2010) Eur J Hum Genet
    • Banka, S.1    Chervinsky, E.2    Newman, W.G.3
  • 18
    • 33847420515 scopus 로고    scopus 로고
    • Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatasebeta
    • Cheung YY, Kim SY, Yiu WH, et al. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatasebeta. J Clin Invest 2007; 117:784-793.
    • (2007) J Clin Invest , vol.117 , pp. 784-793
    • Cheung, Y.Y.1    Kim, S.Y.2    Yiu, W.H.3
  • 19
    • 77957959873 scopus 로고    scopus 로고
    • Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose- 6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome
    • Epub ahead of print
    • Jun HS, Lee YM, Cheung YY, et al. Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose- 6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome. Blood 2010. [Epub ahead of print]
    • (2010) Blood
    • Jun, H.S.1    Lee, Y.M.2    Cheung, Y.Y.3
  • 21
    • 77649153819 scopus 로고    scopus 로고
    • WASP: A key immunological multitasker
    • Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat Rev Immunol 2010; 10:182-192.
    • (2010) Nat Rev Immunol , vol.10 , pp. 182-192
    • Thrasher, A.J.1    Burns, S.O.2
  • 22
    • 34548447079 scopus 로고    scopus 로고
    • Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia
    • Moulding DA, Blundell MP, Spiller DG, et al. Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J Exp Med 2007; 204:2213-2224.
    • (2007) J Exp Med , vol.204 , pp. 2213-2224
    • Moulding, D.A.1    Blundell, M.P.2    Spiller, D.G.3
  • 23
    • 77953497134 scopus 로고    scopus 로고
    • Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes
    • Westerberg LS, Meelu P, Baptista M, et al. Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. J Exp Med 2010; 207:1145-1152.
    • (2010) J Exp Med , vol.207 , pp. 1145-1152
    • Westerberg, L.S.1    Meelu, P.2    Baptista, M.3
  • 24
    • 0035093787 scopus 로고    scopus 로고
    • Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
    • Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001; 27:313-317.
    • (2001) Nat Genet , vol.27 , pp. 313-317
    • Devriendt, K.1    Kim, A.S.2    Mathijs, G.3
  • 25
    • 33749343053 scopus 로고    scopus 로고
    • Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
    • Ancliff PJ, Blundell MP, Cory GO, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006; 108:2182-2189.
    • (2006) Blood , vol.108 , pp. 2182-2189
    • Ancliff, P.J.1    Blundell, M.P.2    Cory, G.O.3
  • 26
    • 57449089754 scopus 로고    scopus 로고
    • A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene
    • Beel K, Cotter MM, Blatny J, et al. A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol 2009; 144:120-126.
    • (2009) Br J Haematol , vol.144 , pp. 120-126
    • Beel, K.1    Cotter, M.M.2    Blatny, J.3
  • 27
    • 70350435426 scopus 로고    scopus 로고
    • Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
    • Xia J, Bolyard AA, Rodger E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009; 147:535-542.
    • (2009) Br J Haematol , vol.147 , pp. 535-542
    • Xia, J.1    Bolyard, A.A.2    Rodger, E.3
  • 28
    • 70349747024 scopus 로고    scopus 로고
    • Novel genetic etiologies of severe congenital neutropenia
    • Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol 2009; 21:472-480.
    • (2009) Curr Opin Immunol , vol.21 , pp. 472-480
    • Boztug, K.1    Klein, C.2
  • 29
    • 78751636812 scopus 로고    scopus 로고
    • Congenital neutropenia
    • in press
    • Klein C. Congenital neutropenia. Ann Rev Immunol (in press).
    • Ann Rev Immunol
    • Klein, C.1
  • 30
    • 34249654593 scopus 로고    scopus 로고
    • G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms
    • Donini M, Fontana S, Savoldi G, et al. G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood 2007; 109:4716-4723.
    • (2007) Blood , vol.109 , pp. 4716-4723
    • Donini, M.1    Fontana, S.2    Savoldi, G.3
  • 31
    • 70449466604 scopus 로고    scopus 로고
    • Neutrophil elastase is severely downregulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1
    • Skokowa J, Fobiwe JP, Dan L, et al. Neutrophil elastase is severely downregulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1. Blood 2009; 114:3044-3051.
    • (2009) Blood , vol.114 , pp. 3044-3051
    • Skokowa, J.1    Fobiwe, J.P.2    Dan, L.3
  • 32
    • 33749510883 scopus 로고    scopus 로고
    • LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia
    • Skokowa J, Cario G, Uenalan M, et al. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 2006; 12:1191-1197.
    • (2006) Nat Med , vol.12 , pp. 1191-1197
    • Skokowa, J.1    Cario, G.2    Uenalan, M.3
  • 33
    • 0024317186 scopus 로고
    • Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis
    • Bonilla MA, Gillio AP, Ruggeiro M, et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 1989; 320:1574-1580.
    • (1989) N Engl J Med , vol.320 , pp. 1574-1580
    • Bonilla, M.A.1    Gillio, A.P.2    Ruggeiro, M.3


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