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1) Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol. 2006; 43: 189-95
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2) Boxer LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatric Blood & Cancer. DOI, 21 Jun, 2007
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3) Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000; 96: 2317-22
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4) Ancliff PJ, Gale RE, Michael J, et al. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. Blood. 2002; 100: 707-9
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5) Kawaguchi H, Kobayashi M, Nakamura K, et al. Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia. J Leuk Biol. 2003; 73: 225-34
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6) Bellanne-Chantelot C, Clauin S, Leblanc T, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004; 103: 4119-25
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7) Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007; 109: 1817-24
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8) 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: 433-6
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9) Haddy TB, Rena SR, Castro O, et al. Benign ethnic neutropenia: what is a normal absolute neutrophil count? J Lab Clin Med. 1999; 133: 15-22
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10) Benson KF, Li FQ, Person RE, et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet. 2003; 35: 90-6
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11) Hunter MG, Drunhan LJ, Massullo PR, et al. Proteolytic cleavage of granulocyte colony-stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cells surface expression of the granulocyte colony-stimulating factor receptor. Am J Hematol. 2003; 74: 149-55
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12) El Ouriaghli F, Fujiwara H, Melenhorst JJ, et al. Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: Implications for the regulation of granulopoiesis. Blood. 2003; 101: 1752-8
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13) Grenda DS, Murakami M, Ghatak J, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007; doi: 10. 1182/blood-2006-11-057299
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14) Kollner I, Sodeik B, Schreek S, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006; 108: 493-500
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15) Salipante S, Benson KF, Luty J, et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat. 2007; DOI 10. 1002/humu. 20520
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16) 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: 1191-7
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17) Massullo P, Druhan LJ, Bunnell BA, et al. Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. Blood. 2005; 105: 3397-404
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18) Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007; 39: 86-92
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19) Cilenti L, Soundarapandian MM, Kyriazis GA, et al. Regulation of HAX-1 anti-apoptotic protein by Omi/HtrA2 protease during cell death. J Biol Chem. 2004; 279: 50295-301
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20) Matsubara K, Imai K, Okada S, et al. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica (印刷中)
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21) Carlsson G, Aprikyan AA, Tehranchi R, et al. 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. Blood. 2004; 103: 3355-61
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22) Karsunky H, Zeng H, Schmidt T, et al. Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. Nat Genet. 2002; 30: 295-300
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23) Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003; 34: 308-12
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24) Fontana S, Parolini S, Vermi W, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood. 2006; 107: 4857-64
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25) Jung J, Bohn G, Allroth A, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood. 2006; 108: 362-9
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26) Hernandez PA, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003; 34: 70-6
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27) Aprikyan AAG, Liles WC, Park JR, et al. Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood. 2000; 95: 320-7
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28) Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 2001; 27: 313-7
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29) 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: 2182-9
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30) Boocok GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003; 33: 97-101
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31) Ganapahi KA, Austin KM, Lee C-S, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates withs ribosomal RNA. Blood. DOI 2 May 2007
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32) Flygare J, Aspesi A, Bailey JC, et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood. 2007; 109: 980-6
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