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Volumn 62, Issue 1, 2015, Pages 103-108

Genetic analysis and clinical picture of severe congenital neutropenia in Israel

(18)  Lebel, Asaf a   Yacobovich, Joanne a   Krasnov, Tanya b   Koren, Ariel c   Levin, Carina c   Kaplinsky, Chaim d   Ravel Vilk, Shoshana e   Laor, Ruth f   Attias, Dina f   Barak, Ayelet Ben g   Shtager, Dalia h   Stein, Jerry a   Kuperman, Amir i   Miskin, Hagit j   Dgany, Orly b   Giri, Neelam k   Alter, Blanche P k   Tamary, Hannah a,b  


Author keywords

Bone marrow failure; Molecular genetics; Neutropenia

Indexed keywords

GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; DNA BINDING PROTEIN; G6PC3 PROTEIN, HUMAN; GFI1 PROTEIN, HUMAN; GLUCOSE 6 PHOSPHATASE; HAX1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TRANSCRIPTION FACTOR; WAS PROTEIN, HUMAN; WISKOTT ALDRICH SYNDROME PROTEIN;

EID: 84922823799     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25251     Document Type: Article
Times cited : (27)

References (35)
  • 3
    • 77049235105 scopus 로고
    • Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria
    • Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl 1956; 45:1-78.
    • (1956) Acta Paediatr Suppl , vol.45 , pp. 1-78
    • Kostmann, R.1
  • 4
    • 47049090395 scopus 로고    scopus 로고
    • Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis
    • Berliner N. Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis. Blood 2008; 111:5427-5432.
    • (2008) Blood , vol.111 , pp. 5427-5432
    • Berliner, N.1
  • 5
    • 79956035262 scopus 로고    scopus 로고
    • Congenital neutropenia: Diagnosis, molecular bases and patient management
    • Donadieu J, Fenneteau O, Beaupain B, et al. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011; 6:26.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 26
    • Donadieu, J.1    Fenneteau, O.2    Beaupain, B.3
  • 6
    • 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
  • 7
    • 58149127255 scopus 로고    scopus 로고
    • Genetic and molecular diagnosis of severe congenital neutropenia
    • Ward AC, Dale DC. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol 2009; 16:9-13.
    • (2009) Curr Opin Hematol , vol.16 , pp. 9-13
    • Ward, A.C.1    Dale, D.C.2
  • 8
    • 78751624551 scopus 로고    scopus 로고
    • Genetic etiologies of severe congenital neutropenia
    • Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr 2011; 23:21-26.
    • (2011) Curr Opin Pediatr , vol.23 , pp. 21-26
    • Boztug, K.1    Klein, C.2
  • 9
    • 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
  • 10
    • 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
  • 11
    • 84858335877 scopus 로고    scopus 로고
    • Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia
    • e672.
    • Boztug K, Rosenberg PS, Dorda M, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012; 160:679-683, e672.
    • (2012) J Pediatr , vol.160 , pp. 679-683
    • Boztug, K.1    Rosenberg, P.S.2    Dorda, M.3
  • 12
    • 85028120628 scopus 로고    scopus 로고
    • Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    • 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 2011; 19:18-22.
    • (2011) Eur J Hum Genet , vol.19 , pp. 18-22
    • Banka, S.1    Chervinsky, E.2    Newman, W.G.3
  • 13
    • 84862260436 scopus 로고    scopus 로고
    • Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
    • Smith BN, Evans C, Ali A, et al. Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. Br J Haematol 2012; 158:146-149.
    • (2012) Br J Haematol , vol.158 , pp. 146-149
    • Smith, B.N.1    Evans, C.2    Ali, A.3
  • 14
    • 84878818411 scopus 로고    scopus 로고
    • A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
    • Banka S, Newman WG. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 2013; 8:84.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 84
    • Banka, S.1    Newman, W.G.2
  • 15
    • 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
  • 16
    • 35948971397 scopus 로고    scopus 로고
    • Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil
    • Schaffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 2007; 7:481-494.
    • (2007) Curr Opin Allergy Clin Immunol , vol.7 , pp. 481-494
    • Schaffer, A.A.1    Klein, C.2
  • 17
    • 58549087140 scopus 로고    scopus 로고
    • Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
    • Zeidler C, Germeshausen M, Klein C, et al. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009; 144:459-467.
    • (2009) Br J Haematol , vol.144 , pp. 459-467
    • Zeidler, C.1    Germeshausen, M.2    Klein, C.3
  • 18
    • 58249084744 scopus 로고    scopus 로고
    • The many causes of severe congenital neutropenia
    • Dale DC, Link DC. The many causes of severe congenital neutropenia. N Engl J Med 2009; 360:3-5.
    • (2009) N Engl J Med , vol.360 , pp. 3-5
    • Dale, D.C.1    Link, D.C.2
  • 19
    • 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
  • 20
    • 75949091426 scopus 로고    scopus 로고
    • Genetic insights into congenital neutropenia
    • Klein C, Welte K. Genetic insights into congenital neutropenia. Clin Rev Allergy Immunol 2010; 38:68-74.
    • (2010) Clin Rev Allergy Immunol , vol.38 , pp. 68-74
    • Klein, C.1    Welte, K.2
  • 21
    • 84872738388 scopus 로고    scopus 로고
    • Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase
    • vii.
    • Boztug K, Klein C. Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematol Oncol Clin North Am 2013; 27:43-60, vii.
    • (2013) Hematol Oncol Clin North Am , vol.27 , pp. 43-60
    • Boztug, K.1    Klein, C.2
  • 22
    • 84879753994 scopus 로고    scopus 로고
    • A congenital neutrophil defect syndrome associated with mutations in VPS45
    • Vilboux T, Lev A, Malicdan MC, et al. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med 2013; 369:54-65.
    • (2013) N Engl J Med , vol.369 , pp. 54-65
    • Vilboux, T.1    Lev, A.2    Malicdan, M.C.3
  • 23
    • 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
  • 24
    • 2542434031 scopus 로고    scopus 로고
    • Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register
    • 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; 103:4119-4125.
    • (2004) Blood , vol.103 , pp. 4119-4125
    • Bellanne-Chantelot, C.1    Clauin, S.2    Leblanc, T.3
  • 25
    • 58849137097 scopus 로고    scopus 로고
    • Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: A novel mutation in two unrelated British kindreds
    • Smith BN, Ancliff PJ, Pizzey A, et al. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: A novel mutation in two unrelated British kindreds. Br J Haematol 2009; 144:762-770.
    • (2009) Br J Haematol , vol.144 , pp. 762-770
    • Smith, B.N.1    Ancliff, P.J.2    Pizzey, A.3
  • 26
    • 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
  • 27
    • 84863834071 scopus 로고    scopus 로고
    • Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
    • Carlsson G, Fasth A, Berglof E, et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol 2012; 158:363-369.
    • (2012) Br J Haematol , vol.158 , pp. 363-369
    • Carlsson, G.1    Fasth, A.2    Berglof, E.3
  • 28
    • 84878151900 scopus 로고    scopus 로고
    • The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia
    • Germeshausen M, Deerberg S, Peter Y, et al. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat 2013; 34:905-914.
    • (2013) Hum Mutat , vol.34 , pp. 905-914
    • Germeshausen, M.1    Deerberg, S.2    Peter, Y.3
  • 29
    • 84875492764 scopus 로고    scopus 로고
    • Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations)
    • Alizadeh Z, Fazlollahi MR, Houshmand M, et al. Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations). Iran J Allergy Asthma Immunol 2013; 12:86-92.
    • (2013) Iran J Allergy Asthma Immunol , vol.12 , pp. 86-92
    • Alizadeh, Z.1    Fazlollahi, M.R.2    Houshmand, M.3
  • 30
    • 77954348335 scopus 로고    scopus 로고
    • Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry
    • Tamary H, Nishri D, Yacobovich J, et al. Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010; 95:1300-1307.
    • (2010) Haematologica , vol.95 , pp. 1300-1307
    • Tamary, H.1    Nishri, D.2    Yacobovich, J.3
  • 31
    • 79952189099 scopus 로고    scopus 로고
    • A case of syndromic neutropenia and mutation in G6PC3
    • Gatti S, Boztug K, Pedini A, et al. A case of syndromic neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol 2011; 33:138-140.
    • (2011) J Pediatr Hematol Oncol , vol.33 , pp. 138-140
    • Gatti, S.1    Boztug, K.2    Pedini, A.3
  • 32
    • 77954477084 scopus 로고    scopus 로고
    • Digenic mutations in severe congenital neutropenia
    • Germeshausen M, Zeidler C, Stuhrmann M, et al. Digenic mutations in severe congenital neutropenia. Haematologica 2010; 95:1207-1210.
    • (2010) Haematologica , vol.95 , pp. 1207-1210
    • Germeshausen, M.1    Zeidler, C.2    Stuhrmann, M.3
  • 33
    • 0027462484 scopus 로고
    • Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein
    • Gilks CB, Bear SE, Grimes HL, et al. Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein. Mol Cell Biol 1993; 13:1759-1768.
    • (1993) Mol Cell Biol , vol.13 , pp. 1759-1768
    • Gilks, C.B.1    Bear, S.E.2    Grimes, H.L.3
  • 34
    • 77950582398 scopus 로고    scopus 로고
    • A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia
    • Khandanpour C, Thiede C, Valk PJ, et al. A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. Blood 2010; 115:2462-2472.
    • (2010) Blood , vol.115 , pp. 2462-2472
    • Khandanpour, C.1    Thiede, C.2    Valk, P.J.3
  • 35
    • 38549100119 scopus 로고    scopus 로고
    • Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia
    • Hochberg JC, Miron PM, Hay BN, et al. Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia. Pediatr Blood Cancer 2008; 50:630-632.
    • (2008) Pediatr Blood Cancer , vol.50 , pp. 630-632
    • Hochberg, J.C.1    Miron, P.M.2    Hay, B.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.