Accès gratuit
Numéro
Med Sci (Paris)
Volume 23, Numéro 2, Février 2007
Page(s) 161 - 166
Section M/S revues
DOI https://doi.org/10.1051/medsci/2007232161
Publié en ligne 15 février 2007
  1. Fischer A, Le Deist F, Hacein-Bey-Abina S, et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev 2005; 203 : 98–109.
  2. Hirschhorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. A molecular and genetic approach. New York : Oxford University Press, 1999 : 121–39.
  3. Leonard WJ, Noguchi M, Russell SM, McBride OW. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c. Immunol Rev 1994; 138 : 61–86.
  4. Macchi P, Villa A, Giliani S, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377 : 65–8.
  5. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet 1998; 20 : 394–7.
  6. Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID. Science 1996; 274 : 97–9.
  7. Moshous D, Callebaut I, de Chasseval R, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001; 105 : 177–86.
  8. Kung C, Pingel JT, Heikinheimo M, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 2000; 6 : 343–5.
  9. Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med 2003; 349 : 1821–8.
  10. De Saint Basile G, Geissmann F, Flori E, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest 2004; 114 : 1512–7.
  11. Werlen G, Palmer E. The T-cell receptor signalosome: a dynamic structure with expanding complexity. Curr Opin Immunol 2002; 14 : 299–305.
  12. Call ME, Wucherpfennig KW. Molecular mechanisms for the assembly of the T cell receptor-CD3 complex. Mol Immunol 2004; 40 : 1295–305.
  13. Haks MC, Krimpenfort P, Borst J, Kruisbeek AM. The CD3gamma chain is essential for development of both the TCRalphabeta and TCRgammadelta lineages. EMBO J 1998; 17 : 1871–82.
  14. Dave VP, Cao Z, Browne C, et al. CD3 delta deficiency arrests development of the alpha beta but not the gamma delta T cell lineage. EMBO J 1997; 16 : 1360–70.
  15. Love PE, Shores EW, Johnson MD, et al. T cell development in mice that lack the zeta chain of the T cell antigen receptor complex. Science 1993; 261 : 918–21.
  16. Takada H, Nomura A, Roifman CM, Hara T. Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene. Eur J Pediatr 2005; 164 : 311–4.
  17. Fukuhara K, Okumura M, Shiono H, et al. A study on CD45 isoform expression during T-cell development and selection events in the human thymus. Hum Immunol 2002; 63 : 394–404.
  18. Delgado P, Fernandez E, Dave V, et al. CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. Nature 2000; 406 : 426–30.
  19. Malissen M, Gillet A, Ardouin L, et al. Altered T cell development in mice with a targeted mutation of the CD3-epsilon gene. EMBO J 1995; 14 : 4641–53.
  20. Sommers CL, Dejarnette JB, Huang K, et al. Function of CD3 epsilon-mediated signals in T cell development. J Exp Med 2000; 192 : 913–19.
  21. Soudais C, de Villartay JP, Le Deist F, et al. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet 1993; 3 : 77–81.
  22. Arnaiz-Villena A, Timon M, Corell A, et al. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. N Engl J Med 1992; 327 : 529–33.
  23. Regueiro JR, Pacheco A, Alvarez-Zapata D, et al. CD3 deficiencies. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiencies diseases: a moleclular and genetic approach. New York : Oxford University Press, 1999 : 189–97.
  24. Van Tol M, Sanal O, Langlois Van den Bergh R, et al. CD3γ chain deficiency leads to a cellular immunodeficiency with a mild clinical presentation. Immmunologist 1997; (suppl 1): 41–3.
  25. Torres PS, Alcover A, Zapata DA, et al. TCR dynamics in human mature T lymphocytes lacking CD3 gamma. J Immunol 2003; 170 : 5947–55.
  26. Rieux-Laucat F, Hivroz C, Lim A, et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med 2006; 354 : 1913–21.
  27. Malissen M, Gillet A, Rocha B, et al. T cell development in mice lacking the CD3-zeta/eta gene. EMBO J 1993; 12 : 4347–55.
  28. Lin SY, Ardouin L, Gillet A, et al. The single positive T cells found in CD3-zeta/eta−/− mice overtly react with self-major histocompatibility complex molecules upon restoration of normal surface density of T cell receptor-CD3 complex. J Exp Med 1997; 185 : 707–15.
  29. Stephan V, Wahn V, Le Deist F, et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 1996; 335 : 1563–7.
  30. Ariga T, Yamada M, Sakiyama Y, Tatsuzawa O. A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient’s peripheral blood lymphocytes. Blood 1998; 92 : 699–701.
  31. Wada T, Toma T, Okamoto H, et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 2005; 106 : 2099–101.
  32. Hirschhorn R, Yang DR, Puck JM, et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996; 13 : 290–5.
  33. Arpaia E, Shahar M, Dadi H, et al. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Cell 1994; 76 : 947–58.

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