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 - databases for immunodeficiency-causing variations

   RFXAPbase
   Variation registry for  Regulatory factor X-associated protein deficiency


RFXAPbase mutation publications

[2001] [1998] [1997] [1994]

Search PubMed latest citations for RFXAP mutations

    2001

  • MHC class II deficiency: a disease of gene regulation.
    Villard J, Masternak K, Lisowska-Grospierre B, Fischer A, Reith W
    Medicine (Baltimore) 2001(6): 405-18 [PubMed abstract].

  • Primary immunodeficiency mutation databases.
    Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI
    Adv Genet 2001(): 103-88 [PubMed abstract].

    1998

  • Genetic and molecular definition of complementation group D in MHC class II deficiency.
    Fondaneche MC, Villard J, Wiszniewski W, Jouanguy E, Etzioni A, Le Deist F, Peijnenburg A, Casanova JL, Reith W, Mach B, Fischer A, Lisowska-Grospierre B
    Hum Mol Genet 1998(5): 879-85 [PubMed abstract].

    1997

  • Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
    Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith W, Mach B
    N Engl J Med 1997(11): 748-53 [PubMed abstract].

  • RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
    Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W
    EMBO J 1997(5): 1045-55 [PubMed abstract].

    1994

  • Two complementation groups account for most cases of inherited MHC class II deficiency.
    Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A
    Hum Mol Genet 1994(6): 953-8 [PubMed abstract].