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 - databases for immunodeficiency-causing variations

   LIG4base
   Variation registry for  LIG4 syndrome


LIG4base mutation publications

[2007] [2006] [2005] [2001] [1999]

Search PubMed latest citations for LIG4 mutations

    2007

  • Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
    Toita N, Hatano N, Ono S, Yamada M, Kobayashi R, Kobayashi I, Kawamura N, Okano M, Satoh A, Nakagawa A, Ohshima K, Shindoh M, Takami T, Kobayashi K, Ariga T
    Am J Med Genet A 2007(7): 742-5 [PubMed abstract].

    2006

  • Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
    Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M, Fischer A, Casanova JL, Lieber MR, de Villartay JP
    Eur J Immunol 2006(1): 224-35 [PubMed abstract].

  • A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.
    Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S
    J Immunol 2006(8): 5060-8 [PubMed abstract].

  • A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
    van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC
    J Clin Invest 2006(1): 137-45 [PubMed abstract].

    2005

  • A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
    Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM
    Am J Med Genet A 2005(3): 283-7 [PubMed abstract].

    2001

  • Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.
    Yamada M, Matsuura S, Tsukahara M, Ebe K, Ohtsu M, Furuta H, Kobayashi I, Kawamura N, Okano M, Shouji R, Kobayashi K
    Am J Med Genet 2001(1): 9-12 [PubMed abstract].

  • DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
    O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P
    Mol Cell 2001(6): 1175-85 [PubMed abstract].

    1999

  • Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.
    Riballo E, Critchlow SE, Teo SH, Doherty AJ, Priestley A, Broughton B, Kysela B, Beamish H, Plowman N, Arlett CF, Lehmann AR, Jackson SP, Jeggo PA
    Curr Biol 1999(13): 699-702 [PubMed abstract].