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   STAT1base
   Variation registry for  STAT1 deficiency


STAT1base mutation publications

[2009] [2006] [2003] [2001]

Search PubMed latest citations for STAT1 mutations

    2009

  • A partial form of recessive STAT1 deficiency in humans.
    Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL
    J Clin Invest 2009(6): 1502-14 [PubMed abstract].

    2006

  • Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
    Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL
    PLoS Genet 2006(8): e131 [PubMed abstract].

    2003

  • Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
    Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL
    Nat Genet 2003(3): 388-91 [PubMed abstract].

    2001

  • Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
    Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD, Casanova JL
    Science 2001(5528): 300-3 [PubMed abstract].