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 - databases for immunodeficiency-causing variations

   RFX5base
   Variation registry for  MHCII promoter X box regulatory factor 5 deficiency


RFX5base mutation publications

[2002] [2001] [1999] [1997] [1995]

Search PubMed latest citations for RFX5 mutations

    2002

  • Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.
    Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM
    Nat Immunol 2002(11): 1075-81 [PubMed abstract].

    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].

    1999

  • Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
    Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ
    Immunogenetics 1999(4): 338-45 [PubMed abstract].

    1997

  • Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.
    Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van den Elsen PJ, Mach B
    Hum Mutat 1997(6): 430-5 [PubMed abstract].

    1995

  • Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients.
    Hauber I, Gulle H, Wolf HM, Maris M, Eggenbauer H, Eibl MM
    J Exp Med 1995(4): 1411-23 [PubMed abstract].

  • Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses.
    Wolf HM, Hauber I, Gulle H, Thon V, Eggenbauer H, Fischer MB, Fiala S, Eibl MM
    N Engl J Med 1995(2): 86-90 [PubMed abstract].

  • A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).
    Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W
    Genes Dev 1995(9): 1021-32 [PubMed abstract].