메뉴 건너뛰기




Volumn 31, Issue 5, 2009, Pages 319-324

Ela2 mutations and clinical manifestations in familial congenital neutropenia

Author keywords

Neutropenia; Neutrophil elastase; Neutrophil specific granule protein

Indexed keywords

ANTIBIOTIC AGENT; CATHELICIDIN; CATHELICIDIN ANTIMICROBIAL PEPTIDE; COTRIMOXAZOLE; ERYTHROMYCIN; GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE; NEUTROPHIL GELATINASE ASSOCIATED LIPOCALIN; POLYPEPTIDE ANTIBIOTIC AGENT; UNCLASSIFIED DRUG; ANTIMICROBIAL CATIONIC PEPTIDE; CAP18 LIPOPOLYSACCHARIDE BINDING PROTEIN; CAP18 LIPOPOLYSACCHARIDE-BINDING PROTEIN;

EID: 66149123032     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181984dbe     Document Type: Article
Times cited : (11)

References (25)
  • 1
    • 0242354775 scopus 로고    scopus 로고
    • Congenital neutropenia
    • Ancliff PJ. Congenital neutropenia. Blood Rev. 2003;17: 209-216.
    • (2003) Blood Rev , vol.17 , pp. 209-216
    • Ancliff, P.J.1
  • 3
    • 35148829886 scopus 로고    scopus 로고
    • A molecular classification of congenital neutropenia syndromes
    • Boxer LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007; 49:609-614.
    • (2007) Pediatr Blood Cancer , vol.49 , pp. 609-614
    • Boxer, L.A.1    Newburger, P.E.2
  • 4
    • 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
  • 5
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutro-penia
    • Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutro-penia. Blood. 2000;96:2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3
  • 6
    • 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 PA, Gale RE, Liesner R, et al. 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.A.1    Gale, R.E.2    Liesner, R.3
  • 7
    • 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
  • 8
    • 34948886663 scopus 로고    scopus 로고
    • Severe congenital neutropenia: New genes explain an old disease
    • Bohn G, Welte K, Klein C. Severe congenital neutropenia: new genes explain an old disease. Curr Opin Rheumatol. 2007;19: 644-650.
    • (2007) Curr Opin Rheumatol , vol.19 , pp. 644-650
    • Bohn, G.1    Welte, K.2    Klein, C.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
    • 33845904894 scopus 로고    scopus 로고
    • HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
    • Klein C, Grudzien M, 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
    • Klein, C.1    Grudzien, M.2    Appaswamy, G.3
  • 11
    • 57349091704 scopus 로고    scopus 로고
    • Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the B86X mutation in the HAX1 gene
    • Ishikawa N, Okada S, Miki M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the B86X mutation in the HAX1 gene. J Med Genet. 2008;45:802-807.
    • (2008) J Med Genet , vol.45 , pp. 802-807
    • Ishikawa, N.1    Okada, S.2    Miki, M.3
  • 12
    • 34547515063 scopus 로고    scopus 로고
    • Expression of bactericidal/permeability-increasing protein requires C/EBPε
    • Tanaka M, Gombart AF, Koeffler HP, et al. Expression of bactericidal/permeability-increasing protein requires C/EBPε. Int J Hematol. 2007;85:304-311.
    • (2007) Int J Hematol , vol.85 , pp. 304-311
    • Tanaka, M.1    Gombart, A.F.2    Koeffler, H.P.3
  • 13
    • 0030997435 scopus 로고    scopus 로고
    • Granules of the human neutrophilic polymorphonuclear leukocyte
    • Borregaard N, Cowland JB. Granules of the human neutrophilic polymorphonuclear leukocyte. Blood. 1997;89: 3503-3521.
    • (1997) Blood , vol.89 , pp. 3503-3521
    • Borregaard, N.1    Cowland, J.B.2
  • 14
    • 0037634475 scopus 로고    scopus 로고
    • Efficacy of prophylactic use of trimethoprim-sulfamethoxazole in autoimmune neutropenia in infancy
    • Kobayashi M, Sato T, Kawaguchi H, et al. Efficacy of prophylactic use of trimethoprim-sulfamethoxazole in autoimmune neutropenia in infancy. J Pediatr Hematol Oncol. 2003;25:553-557.
    • (2003) J Pediatr Hematol Oncol , vol.25 , pp. 553-557
    • Kobayashi, M.1    Sato, T.2    Kawaguchi, H.3
  • 15
    • 34548133577 scopus 로고    scopus 로고
    • Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
    • De Backer J, Loeys B, Leroy B, et al. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007;72: 188-198.
    • (2007) Clin Genet , vol.72 , pp. 188-198
    • De Backer, J.1    Loeys, B.2    Leroy, B.3
  • 16
    • 0032900445 scopus 로고    scopus 로고
    • The LQT syndromes-current status of molecular mechanisms
    • Schulze-Bahr E, Wedekind H, Haverkamp W, et al. The LQT syndromes-current status of molecular mechanisms. Z Kardiol. 1999;88:245-254.
    • (1999) Z Kardiol , vol.88 , pp. 245-254
    • Schulze-Bahr, E.1    Wedekind, H.2    Haverkamp, W.3
  • 18
    • 0035353169 scopus 로고    scopus 로고
    • Neutrophilspecific granule deficiency: Homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein-ε
    • Gombart AF, Shiohara M, Kwok SH, et al. Neutrophilspecific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein-ε. Blood. 2001;97: 2561-2567.
    • (2001) Blood , vol.97 , pp. 2561-2567
    • Gombart, A.F.1    Shiohara, M.2    Kwok, S.H.3
  • 19
    • 0842288434 scopus 로고    scopus 로고
    • Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency
    • Shiohara M, Gombart AF, Sekiguchi Y, et al. Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. J Leukoc Biol. 2004;75: 190-197.
    • (2004) J Leukoc Biol , vol.75 , pp. 190-197
    • Shiohara, M.1    Gombart, A.F.2    Sekiguchi, Y.3
  • 20
    • 33947517620 scopus 로고    scopus 로고
    • Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia
    • Karlsson J, Carlsson G, Ramme KG, et al. Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol. 2007;137:166-169.
    • (2007) Br J Haematol , vol.137 , pp. 166-169
    • Karlsson, J.1    Carlsson, G.2    Ramme, K.G.3
  • 22
    • 0037068959 scopus 로고    scopus 로고
    • Deficiency of antibacterial peptides in patients with morbus Kostmann: An observation study
    • Putsep K, Carlsson G, Boman HG, et al. Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study. Lancet. 2002;360:1144-1149.
    • (2002) Lancet , vol.360 , pp. 1144-1149
    • Putsep, K.1    Carlsson, G.2    Boman, H.G.3
  • 23
    • 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
  • 24
    • 55549129604 scopus 로고    scopus 로고
    • Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia
    • Karlsson J, Carlsson G, Larne O, et al. Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia. J Leukoc Biol. 2008;84:1279-1286.
    • (2008) J Leukoc Biol , vol.84 , pp. 1279-1286
    • Karlsson, J.1    Carlsson, G.2    Larne, O.3
  • 25
    • 33947193050 scopus 로고    scopus 로고
    • Regulation of the CAMP gene by 1,25(OH)2D3 in various tissues
    • Gombart AF, O'Kelly J, Saito T, et al. Regulation of the CAMP gene by 1,25(OH)2D3 in various tissues. J Steroid Biochem Mol Biol. 2007;103:552-557.
    • (2007) J Steroid Biochem Mol Biol , vol.103 , pp. 552-557
    • Gombart, A.F.1    O'Kelly, J.2    Saito, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.