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   ELA2base
   Variation registry for  Cyclic neutropenia; Congenital neutropenia


ELA2base mutation publications

[2010] [2009] [2008] [2007] [2006] [2005] [2004] [2003] [2002] [2001] [2000] [1999] [1996]

Search PubMed latest citations for ELA2 mutations

    2010

  • Digenic mutations in severe congenital neutropenia.
    Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K
    Haematologica 2010(7): 1207-10 [PubMed abstract].

    2009

  • A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
    Lee ST, Yoon HS, Kim HJ, Lee JH, Park JH, Kim SH, Seo JJ, Im HJ
    Ann Hematol 2009(6): 593-5 [PubMed abstract].

  • Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.
    Lundén L, Boxhammer S, Carlsson G, Ellström KG, Nordenskjöld M, Lagerstedt-Robinson K, Fadeel B
    Br J Haematol 2009(4): 587-90 [PubMed abstract].

    2008

  • Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
    Carlsson G, van't Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, Trebińska A, Grzybowska E, Palmblad J, Dahl N, Nordenskjöld M, Fadeel B, Henter JI
    J Intern Med 2008(4): 388-400 [PubMed abstract].

  • Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
    Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M
    J Med Genet 2008(12): 802-7 [PubMed abstract].

    2007

  • 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, Vermi W, Tassone L, Gentili F, Zenaro E, Ferrari D, Notarangelo LD, Porta F, Facchetti F, Notarangelo LD, Dusi S, Badolato R
    Blood 2007(11): 4716-23 [PubMed abstract].

    2006

  • Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.
    Boxer LA, Stein S, Buckley D, Bolyard AA, Dale DC
    J Pediatr 2006(5): 633-6 [PubMed abstract].

  • A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter.
    Matsushita H, Asai S, Komiya S, Inoue H, Yabe H, Miyachi H
    Am J Hematol 2006(12): 985-6 [PubMed abstract].

  • Molecular screening of the neutrophil elastase gene in congenital neutropenia.
    Thomas M, Jayandharan G, Chandy M
    Indian Pediatr 2006(12): 1081-4 [PubMed abstract].

    2005

  • A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.
    Sera Y, Kawaguchi H, Nakamura K, Sato T, Habara M, Okada S, Ishikawa N, Kojima S, Katoh O, Kobayashi M
    Haematologica 2005(8): 1032-41 [PubMed abstract].

    2004

  • Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
    Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J
    Blood 2004(11): 4119-25 [PubMed abstract].

    2003

  • Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia.
    Kawaguchi H, Kobayashi M, Nakamura K, Konishi N, Miyagawa S, Sato T, Toyoda H, Komada Y, Kojima S, Todoroki Y, Ueda K, Katoh O
    J Leukoc Biol 2003(2): 225-34 [PubMed abstract].

    2002

  • Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
    Ancliff PJ, Gale RE, Watts MJ, Liesner R, Hann IM, Strobel S, Linch DC
    Blood 2002(2): 707-9 [PubMed abstract].

    2001

  • 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
    Blood 2001(9): 2645-50 [PubMed abstract].

  • Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia.
    Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K
    Br J Haematol 2001(1): 222-4 [PubMed abstract].

    2000

  • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
    Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M
    Blood 2000(7): 2317-22 [PubMed abstract].

    1999

  • 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
    Nat Genet 1999(4): 433-6 [PubMed abstract].

    1996

  • Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis.
    Palmer SE, Stephens K, Dale DC
    Am J Med Genet 1996(4): 413-22 [PubMed abstract].