An interleukin-2 receptor γ chain mutation with normal thymus morphology

Journal of Clinical Investigation

Volumn 100, Issue 12, 1997, Pages 3036-3043

  Sharfe, Nigel ^a   Shahar, Michal ^a   Roifman, Chaim M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Human; Immunodeficiency; Signaling; T cell; X linked

Indexed keywords

INTERLEUKIN 2 RECEPTOR;

ARTICLE; COMBINED IMMUNODEFICIENCY; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LYMPHOCYTE DIFFERENTIATION; PHENOTYPE; PRIORITY JOURNAL; T LYMPHOCYTE; THYMUS; X CHROMOSOME LINKED DISORDER;

EID: 0031466862     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119858     Document Type: Article

References (31)

1. Minami, Y., T. Kono, T. Miyazaki, and T. Taniguchi. 1993. The IL-2 receptor complex: its structure, function, and target genes. Ann. Rev. Immunol. 11:245-267.
2. Rosen, F.S., M.D. Cooper, and R.J.P. Wedgewood. 1995. The primary immunodeficiencies. N. Engl. J. Med. 333:431-440.
3. Noguchi, M., S. Adelstein, X. Cao, and W.J. Leonard. 1993. Characterization of the human interleukin-2 receptor γ chain gene. J. Biol. Chem. 268: 13601-13608.
4. Noguchi, M., H. Yi, H.M. Rosenblatt, A.M. Filipovich, S. Adelstein, W.S. Modi, O.W. McBride, and W.J. Leonard. 1993. Interleukin-2 receptor chain mutation results in X linked severe combined immunodeficiency in humans. Cell. 73:147-157.
5. Taniguchi, T., and Y. Minami. 1993. The IL-2/IL-2 receptor system: a current overview. Cell. 73:5-8.
6. Nakamura, Y., S.M. Russell, S.A. Mess, M. Friedmann, M. Erdos, C. Francois, Y. Jacques, S. Adelstein, and W.J. Leonard. 1994. Heterodimerization of the IL-2 receptor β- and γ-chain cytoplasmic domains is required for signaling. Nature. 369:330-333.
7. Russell, S.M., A.D. Keegan, N. Harada, Y. Nakamura, M. Noguchi, P. Leland, M.C. Friedmann, A. Miyajima, R.K. Puri, W.E. Paul, and W.J. Leonard. 1993. Interleukin-2 receptor γ chain: a functional component of the interleukin-4 receptor. Science. 262:1880-1883.
8. Noguchi, M., Y. Nakamura, S.M. Russell, S.F. Ziegler, M. Tsang, X. Cao, and W.J. Leonard. 1993. Interleukin-2 receptor γ chain: a functional component of the interleukin-7 receptor. Science. 262:1877-1880.
9. Kondo, M., T. Takeshita, M. Higuchi, M. Nakamura, T. Sudo, S-I. Nishikawa, and K. Sugamura. 1994. Functional participation of the IL-2 receptor γ chain in IL-7 receptor complexes. Science. 263:1453-1454.
10. Kondo, M., T. Takeshita, N. Ishii, M. Nakamura, S. Watanabe,. K.-I. Arai, and K. Sugamura. 1993. Sharing of the interleukin-2 (IL-2) receptor γ chain between receptors for IL-2 and IL-4. Science. 262:1874-1878.
11. c chains with Jak1 and Jak3: implications for XSCID and XCID. Science. 266: 1042-1045.
12. Witthuhn, B.A., O. Silvennoinen, O. Miura, K.S. Lai, C. Cwik, E.T. Liu, and J.N. Ihle. 1994. Involvement of the jak-3 janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature. 370:153-157.
13. Miyazaki, T., A. Kawahara, H. Fujii, Y. Nakagawa, Y. Minami, Z.-J. Liu, I. Oishi, O. Silvennoinen, B.A. Witthuhn, J.N. Ihle, and T. Taniguchi. 1994. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science. 266:1045-1047.
14. Johnston, J.A., M. Kawamura, R.A. Kirken, Y.-Q. Chen, T.B. Blake, K. Shibuyas, J.R. Ortaldo, D.W. McVicar, and J.J. O'Shea. 1994. Phosphorylation and activation of the Jak-3 kinase in response to interleukin-2. Nature. 370:151-153.
15. de Saint Basile, G., B. Arveiler, L. Oberle, I. Malcolm, R.J. Levinsky, Y.L. Lau, M. Hofker, M. Debre, C. Griscelli, and J.L. Mandel. 1987. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proc. Natl. Acad. Sci. USA. 84:7576-7579.
16. Puck, J.M., M.E. Conley, and L.C. Bailey. 1993. Refinement of linkage of human severe combined immunodeficiency (SCDX1) to polymorphic markers in Xq13. Am. J. Hum. Genet. 53:176-184.
17. Leonard, W.J., M. Noguchi, S.M. Russell, and D.W. McBride. 1994. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor γ chain as a common γ chain, γyc. Immunol. Rev. 138:61-86.
18. Muegge, K., M.P. Vila, and S.K. Durum. 1993. Interleukin-7: a cofactor for V(D)J rearrangement of the T cell receptor β gene. Science. 261:93-95.
19. +/- precursor cells and blocks the differentiation pathway of TCRαβ cells in fetal thymus organ culture. J. Immunol. 150:2706-2716.
20. Watson, J.D., P.J. Morrissey, A.E. Namen, P.J. Conlon, and M.B. Widmer. 1989. Effect of IL-7 on the growth of fetal thymocytes in culture. J. Immunol. 143:1215-1222.
21. - thymocytes. J. Immunol. 146:3068-3073.
22. Sharfe, N., H. Dadi, and C.M. Roifman. 1995. Jak3 protein tyrosine kinase mediates IL-7 induced activation of phosphatidylinositol 3′ -kinase. Blood. 86:2077-2085.
23. Melamed, A., A. Cohen, and C.M. Roifman. 1994. Expansion of CD3+CD4-CD8-T cell population expressing high levels of IL-5 in Omenn's syndrome. Clin. Exp. Immunol. 95:14-21.
24. Bamborough, P., C.J.R. Hedgecock, and W.G. Richards. 1994. The interleukin-2 and interleukin-4 receptors studied by molecular modelling. Structure. 2:839-851.
25. de Vos A.M., M. Ultsch, and A.A. Kossiakoff. 1992. Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science. 255:306-312.
26. Somers, W., M. Ultsch, A.M. De Vos, and A.A. Kossiakoff. 1994. The X-ray structure of a growth hormone-prolactin receptor complex. Nature. 372: 478-481.
27. Schlamstag, F.C., W.J. Leonard, M. Noguchi, M. Berg, H.E. Rudloff, R.M. Denney, S.K. Dave, E.G. Brooks, and A.S. Goldman. 1995. Missense mutation in exon 7 of the common γ chain causes a moderate form of X-linked combined immunodeficiency. J. Clin. Invest. 95:1169-1173.
28. Peschon, J.J., P.J. Morrissey, K.H. Grabstein, F.J. Ramsdell, E. Maraskovsky, B.C. Giliniak, L.S. Park, S.F. Zeigler, D.E. Williams, C.B. Ware, et al. 1994. Early lymphocyte expansion is severely impaired in interleukin-7 receptor deficient mice. J. Exp. Med. 180:1955-1960.
29. von Freeden-Jeffry, U., P. Vieira, L.A. Lucian, T. McNeil, S.E.G. Burdach, and R. Murray. 1995. Lymphopenia in Interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J. Exp. Med. 181:1519-1526.
30. DiSanto, J.P., A. Dautry-Varsat, S. Certain, A. Fischer, and G. de Saint Basile. 1994. Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease results in the loss of high-affinity IL-2 receptor binding. Eur. J. Immunol. 24:475-479.
31. Bazan, J.F. 1990. Structural design and molecular evolution of a cytonine receptor superfamily. Proc. Natl. Acad. Sci. USA. 87:6934-6938.