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 - databases for immunodeficiency-causing variations

   NPbase
   Variation registry for  PNP deficiency


NPbase mutation publications

[2009] [2008] [2007] [2004] [2002] [2001] [1998] [1997] [1996] [1992] [1987]

Search PubMed latest citations for NP mutations

    2009

  • A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.
    Al-Saud B, Alsmadi O, Al-Muhsen S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield MS, Al-Mousa H
    Clin Biochem 2009(16-17): 1725-7 [PubMed abstract].

    2008

  • Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.
    Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V
    Clin Biochem 2008(4-5): 350-2 [PubMed abstract].

    2007

  • Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.
    Parvaneh N, Ashrafi MR, Yeganeh M, Pouladi N, Sayarifar F, Parvaneh L
    Brain Dev 2007(2): 124-6 [PubMed abstract].

    2004

  • Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
    Grunebaum E, Zhang J, Roifman CM
    Nucleosides Nucleotides Nucleic Acids 2004(8-9): 1411-5 [PubMed abstract].

    2002

  • Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.
    Moallem HJ, Taningo G, Jiang CK, Hirschhorn R, Fikrig S
    Clin Immunol 2002(1): 75-80 [PubMed abstract].

    2001

  • Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
    Dalal I, Grunebaum E, Cohen A, Roifman CM
    Clin Genet 2001(6): 430-7 [PubMed abstract].

    1998

  • Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.
    Sasaki Y, Iseki M, Yamaguchi S, Kurosawa Y, Yamamoto T, Moriwaki Y, Kenri T, Sasaki T, Yamashita R
    Hum Genet 1998(1): 81-5 [PubMed abstract].

    1997

  • Mutations in purine nucleoside phosphorylase deficiency.
    Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE
    Hum Mutat 1997(2): 118-21 [PubMed abstract].

    1996

  • Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.
    Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, Schwarz K
    Hum Genet 1996(6): 706-9 [PubMed abstract].

    1992

  • Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
    Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML
    Am J Hum Genet 1992(4): 763-72 [PubMed abstract].

  • Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.
    Andrews LG, Markert ML
    J Biol Chem 1992(11): 7834-8 [PubMed abstract].

    1987

  • A human purine nucleoside phosphorylase deficiency caused by a single base change.
    Williams SR, Gekeler V, McIvor RS, Martin DW
    J Biol Chem 1987(5): 2332-8 [PubMed abstract].

  • Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients.
    Markert ML, Hershfield MS, Schiff RI, Buckley RH
    J Clin Immunol 1987(5): 389-99 [PubMed abstract].