Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings

European Journal of Immunology

Volumn 26, Issue 9, 1996, Pages 2119-2126

  Feske, Stefan ^a   Müller, Judith M ^a   Graf, Daniel ^b   Kroczek, Richard A ^b   Dräger, Ruth ^a   Niemeyer, Charlotte ^a   Baeuerle, Patrick A ^a,c   Peter, Hans Hartmut ^a   Schlesier, Michael ^a,d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b ROBERT KOCH INSTITUTE   (Germany)

^c AMGEN INC   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Familial SCID; Interleukin 2; Multiple cytokine defect; NF AT

Indexed keywords

CD69 ANTIGEN; INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR; NUCLEAR FACTOR;

ARTICLE; CASE REPORT; COMBINED IMMUNODEFICIENCY; ELECTROPHORETIC MOBILITY; GENE EXPRESSION; HUMAN; HUMAN CELL; MALE; NEWBORN; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SIBLING; T LYMPHOCYTE ACTIVATION;

EID: 0029794222     PISSN: 00142980     EISSN: None     Source Type: Journal    
DOI: 10.1002/eji.1830260924     Document Type: Article

References (45)

1. Noguchi, M., Yi, H., Rosenblatt, H. M., Filipovich, A. H., Adelstein, S., Modi, W. S., McBride, O. W. and Leonard, W. J., Cell 1993. 73: 147.
2. Puck, J. M., Deschenes, S. M., Porter, J. C., Dutra, A. S., Brown, C. J., Willard, H. F. and Henthorn, P. S., Hum. Mol. Genet. 1993. 2: 1099.
3. Arnaiz-Villena, A., Timón, M., Corell, A., Perez-Aciego, P., Martin-Villa, J. M. and Regueiro, J. R., N. Engl. Med. 1992. 327: 529.
4. Soudais, C., De Villartay, J. P., Le Deist, F., Fischer, A. and Lisowska-Grospierre, B., Nature Genet. 1993. 3: 77.
5. Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T. J., Weiss, A. and Parslow, T. G., Science 1994. 264: 1596.
6. Chan, A. C., Iwashima, M., Turck, C. W. and Weiss, A., Cell 1994. 71: 649.
7. Steimle, V., Otten, L. A., Zufferey, M. and Mach, B., Cell 1993. 75: 135.
8. Weinberg, K. and Parkman, R., N. Engl. J. Med. 1990. 322: 1718.
9. DiSanto, J. P., Keever, C. A., Small, T. N., Nicols, G. N., O'Reilly, R. J. and Flomenberg, N., J. Exp. Med. 1990. 171: 1697.
10. Castigli, E., Pahwa, R., Good, R. A., Geha, R. S. and Chatila, T. A., Proc. Natl. Acad. Sci. USA 1993. 90: 4728.
11. Chatila, T., Castigli, E., Pahwa, R., Pahwa, S., Chirmule, N., Oyaizu, N., Good, R. A. and Geha, R. S., Proc. Natl. Acad. Sci. USA 1990. 87: 10033.
12. Jain, J., Loh, C. and Rao, A., Curr. Opin. Immunol. 1995. 7: 333.
13. Northrop, J. P., Ullman, K. S. and Crabtree, G. R., J. Biol. Chem. 1993. 268: 2917.
14. Castigli, E., Chatila, T. A. and Geha, R. S., J. Immunol. 1993. 750: 3284.
15. McCaffrey, P. G., Luo, C., Kerppda, T. K., Jain, J., Badalian, T. M., Ho, A. M., Burgeon, E., Lane, W. S., Lambert, J. N., Curran, T., Verdine, G. L., Rao, A. and Hogan, P. G., Science 1993. 262: 750.
16. Flanagan, W. M., Corthesy, B., Bram, R. J. and Crabtree, G. R., Nature 1991. 352: 803.
17. Northrop, J. P., Ho, S. N., Chen, L., Thomas, D. J., Timmerman, L. A., Nolan, G. P., Admon, A. and Crabtree, G. R., Nature 1994. 369: 497.
18. Masuda, E. S., Naito, Y., Tokumitsu, H., Campbell, D., Saito, F., Hannum, C., Arai, K. I. and Arai, N., Mol. Cell Biol. 1995. 15: 2697.
19. Hoey, T., Sun, Y.-L., Williamson, K. and Xu, X., Immunity 1995. 2: 461.
20. Rooney, J. W., Sun, Y.-L., Glimcher, L. H. and Hoey, T., Mol. Cell Biol. 1995. 15: 6299.
21. Rao, A., Immunol. Today 1994. 15: 274.
22. Schlesier, M., Niemeyer, C., Duffner, U., Henschen, M., Tanzi-Fetta, R., Wolff-Vorbeck, G., Dräger, R., Brandis, M. and Peter, H. H., Immunodeficiency 1993. 4: 133.
23. Rump, A., Niemeyer, C., Schlesier, M., Tüchelmann, T., Feske, S., Dräger, R., Jahreis, A., Brandis, M. and Peter, H. H., Immunobiology 1994. 191: 299 (abstract).
24. Schreiber, E., Matthias, P., Müller, M. M. and Schaffner, W., Nucl. Acids Res. 1989. 17: 6419.
25. Johnson, J. G. and Jenkins, M. K., J. Immunol. 1994. 152: 429.
26. Shaw, J., Meerovitch, K., Elliott, J. F., Bleackley, R. C. and Paetkau, V., Mol. Immunol. 1987. 24: 409.
27. Fraser, J. D., Irving, B. A., Crabtree, G. R. and Weiss, A., Science 1991. 251: 313.
28. Lindsten, T., June, C. H., Ledbetter, J. A., Stella, G. and Thompson, C. B., Science 1989. 244:; 339.
29. Depper, J. M., Leonard, W. J., Krönke, M., Noguchi, P. D., Cunningham, R. E., Waldmann, T. A. and Greene, W. C., J. Immunol. 1984. 133: 3054.
30. Risso, A., Smilovich, D., Capra, M. C., Baldissarro, I., Yan, G., Bargellesi, A. and Cosulich, M. E., J. Immunol. 1991. 146: 4105.
31. Wiskocil, R., Weiss, A., Imboden, J., Kamin-Lewis, R. and Stobo, J., J. Immunol. 1985. 134: 1599.
32. Weiss, A., Imboden, J., Hardy, K., Manger, B., Terhorst, C. and Stobo, J., Annu. Rev. Immunol. 1986. 4: 539.
33. Su, B., Jacinto, E., Hibi, M., Kallunki, T., Karin, M. and Ben-Neriah, Y., Cell 1994. 77: 727.
34. Kang, S.-M., Tsang, W., Doll, S., Scherle, P., Ko, H.-S., Tran, A.-C., Lenardo, M. J. and Staudt, L. M., Mol. Cell Biol. 1992. 12: 3149.
35. Frantz, B., Nordby, E. C., Bren, G., Steffan, N., Paya, C. V., Kincaid, R. L., Tocci, M. J., O'Keefe, S. J. and O'Neill, E. A., EMBO J. 1994. 13: 861.
36. Penix, L., Weaver, W. M., Pang, Y., Young, H. A. and Wilson, C. B., J. Exp. Med. 1993. 178: 1483.
37. Grabstein, K., Dower, S., Gillis, S., Urdal, D. and Larsen, A., J. Immunol. 1986. 136: 4503.
38. Liu, J., Immunol. Today 1993. 14: 290.
39. Sigal, N. H. and Dumont, F. J., Annu. Rev. Immunol. 1992. 10: 519.
40. Arai, N., Nomura, D., Villaret, D., DeWaal Malefijt, R., Seiki, M., Yoshida, M., Minoshima, S., Fukuyama, R., Maekawa, M., Kudoh, J. and et al., J. Immunol. 1989. 142: 274.
41. McCaffrey, P. G., Goldfeld, A. E. and Rao, A., J. Biol. Chem. 1994. 269: 30445.
42. Ullman, K. S., Northrop, J. P., Admon, A. and Crabtree, G. R., Genes Dev. 1993. 7: 188.
43. Pfeuffer, I., Klein-Hessling, S., Heinfling, A., Chuvpilo, S., Escher, C., Brabletz, T., Hentsch, B., Schwarzenback, H., Mathias, P. and Serfling, E., J. Immunol. 1994. 153: 5572.
44. Xanthoudakis, S., Viola, J. P. B., Shaw, K. T. Y., Luo, C., Wallace, J. D., Bozza, P. T., Curran, T. and Rao, E., Science 1996. 227: 892.
45. Northrop, J. P., Ullman, K. S. and Crabtree, G. R., J. Biol. Chem. 1993. 268: 2917.