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  • Bamborough, P., Hedgecock, C.J. & Richards, W.G. (1994) The interleukin-2 and interleukin-4 receptors studied by molecular modelling. Structure, 2, 839851.
  • Cacalano, N.A., Migone, T.S., Bazan, F., Hanson, E.P., Chen, M., Candotti, F., O'Shea, J.J. & Johnston, J.A. (1999) Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. EMBO Journal, 18, 15491558.
  • Cavazzana-Calvo, M., Hacein-Bey, S., De Saint, B.G., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.L., Bousso, P., Deist, F.L. & Fischer, A. (2000) Gene therapy of human severe combined immunodeficiency (SCID) -X1 disease. Science, 288, 669672.DOI: 10.1126/science.288.5466.669
  • Clark, P.A., Lester, T., Genet, S., Jones, A.M., Hendriks, R., Levinsky, R.J. & Kinnon, C. (1995) Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. Human Genetics, 96, 427432.
  • Fan, E., Levin, D.B., Glickman, B.W. & Logan, D.M. (1993) Limitations in the use of SSCP analysis. Mutation Research, 288, 8592.
  • Gaspar, H.B., Lester, T., Levinsky, R.J. & Kinnon, C. (1998) Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA. Clinical Experimental Immunology, 111, 334338.DOI: 10.1046/j.1365-2249.1998.00503.x
  • Giblett, E.R., Ammann, A.J., Wara, D.W., Sandman, R. & Diamond, L.K. (1975) Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet, 1, 10101013.
  • Gilmour, K.C. & Reich, N.C. (1994) Receptor to nucleus signaling by prolactin and interleukin 2 via activation of latent DNA-binding factors. Proceedings of the National Academy of Sciences of the United States of America, 91, 68506854.
  • Gilmour, K.C., Cranston, T., Jones, A., Davies, E.G., Goldblatt, D., Thrasher, A., Kinnon, C., Nichols, K.E. & Gaspar, H.B. (2000) Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression. European Journal of Immunology, 30, 16911697.DOI: 10.1002/1521-4141(200006)30:6<1691::aid-immu1691>3.0.co;2-k
  • Giri, J.G., Ahdieh, M., Eisenman, J., Shanebeck, K., Grabstein, K., Kumaki, S., Namen, A., Park, L.S., Cosman, D. & Anderson, D. (1994) Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15. EMBO Journal, 13, 28222830.
  • Johnston, J.A., Kawamura, M., Kirken, R.A., Chen, Y.Q., Blake, T.B., Shibuya, K., Ortaldo, J.R., McVicar, D.W. & O'Shea, J.J. (1994) Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature, 370, 151153.
  • Kimura, Y., Takeshita, T., Kondo, M., Ishii, N., Nakamura, M., Van Snick, J. & Sugamura, K. (1995) Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex. International Immunology, 7, 115120.
  • MacCarthy-Morrogh, L., Gaspar, H.B., Wang, Y.C., Katz, F., Thompson, L., Layton, M., Jones, A.M. & Kinnon, C. (1998) Absence of expression of the Wiskott–Aldrich syndrome protein in peripheral blood cells of Wiskott–Aldrich syndrome patients. Clinical Immunological Immunopathology, 88, 2227.
  • Macchi, P., Villa, A., Giliani, S., Sacco, M.G., Frattini, A., Porta, F., Ugazio, A.G., Johnston, J.A., Candotti, F. & O'Shea, J.J. (1995) Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature, 377, 6568.
  • Nicolaides, N.C. & Stoeckert, C.J. (1990) A simple, efficient method for the separate isolation of RNA and DNA from the same cells. Biotechniques, 8, 154156.
  • Noguchi, M., Yi, H., Rosenblatt, H.M., Filipovich, A.H., Adelstein, S., Modi, W.S., McBride, O.W. & Leonard, W.J. (1993a) Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell, 73, 147157.
  • Noguchi, M., Nakamura, Y., Russell, S.M., Ziegler, S.F., Tsang, M., Cao, X. & Leonard, W.J. (1993b) Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science, 262, 18771880.
  • Puck, J.M., Pepper, A.E., Henthorn, P.S., Candotti, F., Isakov, J., Whitwam, T., Conley, M.E., Fischer, R.E., Rosenblatt, H.M., Small, T.N. & Buckley, R.H. (1997) Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood, 89, 19681977.
  • Puel, A., Ziegler, S.F., Buckley, R.H. & Leonard, W.J. (1998) Defective IL7R expression in T (-) B (+) NK (+) severe combined immunodeficiency. Nature Genetics, 20, 394397.DOI: 10.1038/3877
  • Russell, S.M., Keegan, A.D., Harada, N., Nakamura, Y., Noguchi, M., Leland, P., Friedmann, M.C., Miyajima, A., Puri, R.K., Paul, W.E. & Leonard, W.J. (1993) Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science, 262, 18801883.
  • Schwarz, K., Gauss, G.H., Ludwig, L., Pannicke, U., Li, Z., Lindner, D., Friedrich, W., Seger, R.A., Hansen-Hagge, T.E., Desiderio, S., Lieber, M.R. & Bartram, C.R. (1996) RAG mutations in human B cell-negative SCID. Science, 274, 9799.DOI: 10.1126/science.274.5284.97
  • Sharfe, N., Shahar, M. & Roifman, C.M. (1997) An interleukin-2 receptor gamma chain mutation with normal thymus morphology. Journal of Clinical Investigations, 100, 30363043.
  • Witthuhn, B.A., Silvennoinen, O., Miura, O., Lai, K.S., Cwik, C., Liu, E.T. & Ihle, J.N. (1994) Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature, 370, 153157.
  • Zhu, Q., Watanabe, C., Liu, T., Hollenbaugh, D., Blaese, R.M., Kanner, S.B., Aruffo, A. & Ochs, H.D. (1997) Wiskott–Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood, 90, 26802689.