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 - databases for immunodeficiency-causing variations

   RFXANKbase
   Variation registry for  Ankyrin repeat containing regulatory factor X-associated protein deficiency


RFXANKbase mutation publications

[2003] [2001] [2000] [1999] [1998]

Search PubMed latest citations for RFXANK mutations

    2003

  • Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
    Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, Le Deist F, Eliaou JF, Fischer A, Lisowska-Grospierre B
    Immunogenetics 2003(11): 747-55 [PubMed abstract].

  • Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.
    Prod'homme T, Dekel B, Barbieri G, Lisowska-Grospierre B, Katz R, Charron D, Alcaide-Loridan C, Pollack S
    Immunogenetics 2003(8): 530-9 [PubMed abstract].

    2001

  • Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency.
    Lennon-Duménil AM, Barbouche MR, Vedrenne J, Prod'Homme T, Béjaoui M, Ghariani S, Charron D, Fellous M, Dellagi K, Alcaïde-Loridan C
    J Immunol 2001(9): 5681-7 [PubMed abstract].

  • Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
    Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM
    Mol Cell Biol 2001(16): 5566-76 [PubMed abstract].

  • 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].

    2000

  • Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
    Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ
    J Immunol 2000(7): 3666-74 [PubMed abstract].

  • Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
    Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B
    Immunogenetics 2000(4-5): 261-7 [PubMed abstract].

    1999

  • The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes.
    DeSandro A, Nagarajan UM, Boss JM
    Am J Hum Genet 1999(2): 279-86 [PubMed abstract].

  • RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
    Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM
    Immunity 1999(2): 153-62 [PubMed abstract].

    1998

  • A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
    Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W
    Nat Genet 1998(3): 273-7 [PubMed abstract].