• 1
    Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 1991; 70: 99117.
  • 2
    Lavin F, Shiloh Y. The genetic defect in ataxia-telangiectasia. Annu Rev Immunol 1997; 15: 177202.
  • 3
    Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268: 174953.
  • 4
    Meyn MS. Ataxia-telangiectasia and cellular responses to DNA damage. Cancer Res 1995; 55: 59916001.
  • 5
    Lavin F, Shiloh Y. Ataxia-telangiectasia: a multifaceted genetic disorder associated with defective signal transduction. Curr Opin Immunol 1996; 8: 45964.
  • 6
    Kastan MB, Lim D. The many substrates and functions of ATM. Nat Rev Mol Cell Biol 2000; 1: 17986.DOI: 10.1038/35043058
  • 7
    Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Nat Cancer Inst 1986; 77: 8992.
  • 8
    McFarlin DE, Strober W, Waldmann TA. Ataxia-telangiectasia. Medicine 1972; 51: 281314.
  • 9
    Oxelius VA, Berkel A, Hanson LA. IgG2 deficiency in ataxia telangiectasia. N Engl J Med 1982; 306: 5157.
  • 10
    Levis WR, Dattner AM, Shaw JS. Selective defects in T cell function in ataxia-telangiectasia. Clinical & Experimental Immunology 1979; 37: 449.
  • 11
    Nelson DL, Biddison WE, Shaw S. Defective in vitro production of influenza virus-specific cytotoxic lymphocytes in ataxia-telangiectasia. J Immunol 1983; 130: 262934.
  • 12
    Paganelli R, Cabobianchi MR, Ensoli B et al. Evidence that defective gamma interferon production in patients with primary immunodeficiencies is due to intrinsic incompetence of lymphocytes. Clinical & Experimental Immunology 1988; 72: 1249.
  • 13
    Khanna KK, Yan J, Watters D et al. Defective signaling through the B cell antigen receptor in Epstein–Barr virus-transformed ataxia telangiectasia cells. J Biol Chem 1997; 272: 948995.
  • 14
    Paganelli R, Scala E, Scarselli E et al. Selective deficiency of CD4+/CD45+ lymphocytes in patients with ataxia-telangiectasia. J Clin Immunol 1992; 12: 8491.
  • 15
    Clement LT. Isoforms of the CD45 common leukocyte antigen family: marker of human T-cell differentiation. J Clin Immunol 1992; 12: 1 10.
  • 16
    Yan M, Qiang W, Liu N, Shen J, Lynn WS, Wong PKY. The ataxia-telangiectasia gene product may modulate DNA turnover and control cell fate by regulating cellular redox in lymphocytes. FASEB J 2001; 15: 11328.
  • 17
    Borghesani PR, Alt FW, Bottaro A et al. Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice. Proc Natl Acad Sci USA 2000; 97: 333641.
  • 18
    Barlow C, Hirotsune S, Paylor R et al. Atm-deficient mice. a paradigm of ataxia telangiectasia. Cell 1996; 86: 15971.
  • 19
    Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn S, Baltimore D. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 1996; 10: 241122.
  • 20
    Chao C, Yang EM, Xu Y. Rescue of defective T cell development and function in Atm−/– mice by a functional TCRαβ transgene. J Immunol 2000; 164: 3459.
  • 21
    Primary Immunodeficiency Diseases. Report of a WHO scientific group. Clinical & Experimental Immunology 1997; 40: 16696.
  • 22
    Hecht F, Hecht BK. Cancer in ataxia-telangiectasia patients. Cancer Genet Cytogenet 1990; 46: 919.
  • 23
    Paganelli R, Capobianchi MR, Matricardi PM et al. Defective interferon-gamma production in ataxia-telangiectasia. Clin Immunol Immunopathol 1984; 32: 38791.
  • 24
    Peterson RDA, Funkhouser JD. Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamily. Immunol Today 1989; 10: 3134.
  • 25
    Waldmann TA, Broder S, Goldmann CK, Frost K, Korsmeyer SJ, Medici MA. Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia-telangiectasia. J Clin Invest 1983; 71: 28295.
  • 26
    Fiorilli M, Busiconi L, Pandolfi F, Paganelli R, Russo G, Aiuti F. Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J Clin Immunol 1983; 3: 13541.
  • 27
    Bell EB, Sparshott SM. Interconversion of CD45R subsets of CD4 T cells in vivo. Nature 1990; 348: 1636.
  • 28
    Lahdenpohja N, Hurme N. Naive (CD45RA+) T lymphocytes are more sensitive to oxidative stress-induced signals than memory (CD45RO+) cells. Cell Immunol 1996; 173: 2826.DOI: 10.1006/cimm.1996.0279
  • 29
    Borrego F, Alonso MC, Galiani MD et al. NK phenotypic markers and IL2 response in NK cells from elderly people. Exp Gerontol 1999 1985; 34: 25365.
  • 30
    Yarchoan R, Kurman CC, Nelson DL. Defective specific antiinfluenza virus antibody production in vitro by lymphocytes from patients with ataxia-telangiectasia. In: Gatti RA, Swift M, eds. Ataxia-telangiectasia. Genetics, neuropathology, and immunology of a degenerative disease of childhood. New York, Alan R. Liss, 1985: 315.
  • 31
    Kondo N, Inoue R, Nishimura S et al. Defective calcium-dependent signal transduction in T lymphocytes of ataxia-telangiectasia. Scand J Immunol 1993; 38: 458.
  • 32
    Meydan D, Hellgren D, Lambert B. Variation in the frequency of T-cell receptor β/γ-interlocus recombination in long-term cultures of non-irradiated and X- and γ-irradiated human lymphocytes. Int J Radiat Biol 1998; 74: 697703.
  • 33
    Retiere C, Halary F, Peyrat MA, Le Deist F, Bonneville M, Hallet MM. The mechanism of chromosome 7 inversion in human lymphocytes expressing chimeric gamma beta TCR. J Immunol 1999; 15: 90310.
  • 34
    Hinz T, Allam A, Wesch D, Schindler D, Kabelitz D. Cell-surface expression of transrearranged Vγ-Cβ T-cell receptor chain in healty donors and in ataxia telangiectasia patients. Br J Haematol 2000; 109: 20110.
  • 35
    Lim DS, Kirsch DG, Canman CE et al. ATM binds to β-adaptin in cytoplasmic vesicles. Proc Natl Acad Sci USA 1998; 95: 10146 51.
  • 36
    Watters D, Khanna KK, Beamish H et al. Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene 1997; 14: 191121.
  • 37
    Fukao T, Kaneko H, Birrell G et al. ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells. Blood 1999; 94: 19982006.
  • 38
    Rivero-Carmena M, Porras O, Pelaez B, Pacheco-Castro A, Gatti RA, Regueiro JR. Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4 (+) and CD8 (+) T lymphocytes is ATM-independent. Int Immunol 2000; 12: 92735.