Investigation of signal transduction defects

Manual of Molecular and Clinical Laboratory Immunology: 7th edition

Volumn , Issue , 2022, Pages 901-905

  Elder, Melissa E ^a  

^a UNIVERSITY OF FLORIDA HEALTH   (United States)

Author keywords

Antigen receptor signal transduction pathways; Immune deficiency; Protein tyrosine kinases (PTKs); T cell receptor (TCR); ZAP 70 deficiency

Indexed keywords

EID: 79961034993     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1128/9781555815905.ch100     Document Type: Chapter

References (34)

1. Arnaiz-Villena, A., M. Timon, A. Corell, R Perez-Aciego, J. M. Martin-Villa, and J. R. Regueiro. 1992. Primary immunodeficiency caused by mutations in the gene encoding the CD3-7 subunit of the T-lymphocyte receptor. N. Engl. J. Med. 327:529-533.
2. + thymic selection in humans lacking ZAP-70 kinase. Cell 76:947-958.
3. Buckley, R. H. 2004. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu. Rev. Immunol. 22:625-655.
4. Cabanillas, J. A., R. Cambronero, A. Pacheco-Castro, M. C. Garcia-Rodriguez, J. M. Martin-Fernandez, G. Fontan, and J. R. Regueiro. 2002. Characterization of Herpesvirus saimiri-transformed T lymphocytes from common variable immunodeficiency patients. Clin. Exp. Immunol. 127:366-373.
5. Chan, A. C., T. A. Kadlecek, M. E. Elder, A. H. Filipovich, W.-L. Kuo, M. Iwashima, T. G. Parslow, and A. Weiss. 1994. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264:1599-1601.
6. Dadi, H. K., A. J. Simon, and C. M. Roifman. 2003. Effect of CD38 deficiency on maturation of A/B and γ/δ T cell lineages in severe combined immunodeficiency. N. Engl. J. Med. 349:1821-1828.
7. de Saint Basile, G., F. Geissmann, E. Flori, B. Lambert, C. Soudais, M. Cavazzana-Colvo, A. Durandy, N. Jabado, A. Fischer, and F. Le Diest. 2004. Severe combined immunodeficiency caused by deficiency in either the δ or the e subunit of CD3. J. Clin. Investig. 114:1512-1517.
8. Elder, M. E. 2000. T-cell immunodeficiencies. Pediatr. Clin. N. Am. 47:1253-1274.
9. Elder, M. E., D. Lin, J. Clever, A. C. Chan, T. J. Hope, A. Weiss, and T. G. Parslow. 1994. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264:1596-1599.
10. Elder, M. E., S. Skoda-Smith, T. A. Kadlecek, F. L. Wang, J. Wu, and A. Weiss. 2001. Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. J. Immunol. 166:656-661.
11. Hermiston, M. L., Z. Xu, and A. Weiss. 2003. CD45: a critical regulator of signaling thresholds in immune cells. Annu. Rev. Immunol. 21:107-137.
12. Kelly, M. E., and A. C. Chan. 2000. Regulation of B cell function by linker proteins. Curr. Opin. Immunol. 12:267-275.
13. Kung, C., J. T. Pingel, M. Heikinheimo, T. Klemola, K. Varkila, L. I. Yoo, K. Vuopala, M. Poyhonen, M. Uhari, M. Rogers, S. H. Speck, T. Chatila, and M. L. Thomas. 2000. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency. Nat. Med. 6:343-345.
14. Levitsky, V., and M. G. Masucci. 2002. Manipulation of immune responses by Epstein-Barr virus. Virus Res. 88: 71-86.
15. Macchi, P., A. Villa, S. Gillani, M. G. Sacco, A. Frattini, F. Porta, A. G. Ugazio, J. A. Johnston, F. Candotti, J. J. O'Shea, P. Vezzoni, and L. D. Notarangelo. 1995. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377:65-68.
16. Matsuda, S., T. Suzuki-Fujimoto, A. Minowa, H. Ueno, K. Katamura, and S. Koyasu. 1999. Temperature-sensitive ZAP70 mutants degrading through a proteasome- independent pathway. J. Biol. Chem. 274:34515-34518.
17. Minegishi, Y., J. Rohrer, E. Coustan-Smith, H. M. Lederman, R. Pappu, D. Campana, A. C. Chan, and M. E. Conley. 1999. An essential role for BLNK in human B cell development. Science 286:1954-1957.
18. Negishi, I., N. Motoyama, K.-I. Nakayama, K. Nakayama, S. Senju, S. Hatakeyama, Q. Zhang, A. C. Chan, and D. Y. Loh. 1995. Essential role for ZAp-70 in both positive and negative selection of thymocytes. Nature 376:435-438.
19. Noguchi, M., H. Yi, H. M. Rosenblatt, A. H. Filipovich, S. Adelstein, W. S. Modi, O. W. McBride, and W. J. Leonard. 1993. Interleukin-2 receptor y chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147-157.
20. Noraz, N., K. Schwarz, M. Steinberg, V Dardalhon, C. Rebouissou, R. Hipskind, W. Friedrich, H. Yssel, K. Bacon, and N. Taylor. 2000. Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of Syk. J. Biol. Chem. 275: 15832-15838.
21. O'Shea, J. J., M. Husa, D. Li, S. R. Hofmann, W. Watford, J. L. Roberts, R. H. Buckley, P. Changelian, and F. Candotti. 2004. Jak3 and the pathogenesis of severe combined immunodeficiency. Mol. Immunol. 41:727-737.
22. Palacios, E. H., and A. Weiss. 2004. Function of the Src- family kinases, Lck and Fyn, in T-cell development and activation. Oncogene 23:7990-8000.
23. Pappu, R., A. M. Cheng, B. Li, Q. Gong, C. Chiu, N. Griffin, M. White, B. P. Sleckman, and A. C. Chan. 1999. Requirement for B cell linker protein (BLNK) in B cell development. Science 286:1949-1954.
24. Qian, D., and A. Weiss. 1997. T cell antigen receptor signal transduction. Curr. Opin. Cell Biol. 9:205-212.
25. Rudd, C. E. 1999. Adaptors and molecular scaffolds in immune cell signaling. Cell 96:5-8.
26. Schmalstieg, F. C., and A. S. Goldman. 2002. Immune consequences of mutations in the human common γ-chain gene. Mol. Genet. Metab. 76:163-171.
27. Sieomi, L., S. Kliche, J. Lindquist, and B. Schraven. 2004. Adaptors and linkers in T and B cells. Curr. Opin. Immunol. 16:304-313.
28. Soudais, C., J. P. Villartay, F. Le Diest, A. Fischer, and B. Lisowska-Grospierre. 1993. Independent mutations of the human CDi-E. gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat. Genet. 3:77-81.
29. Tan, J. E., S. C. Wong, S. K. Gan, S. Xu, and K. P. Lam. 2001. The adaptor protein BLNK is required for B-cell antigen receptor-induced activation of NF-kB and cell cycle entry and survival of B lymphocytes. J. Biol. Chem. 276:20055-20063.
30. Tchilian, E. Z., D. L. Wallace, R. S. Wells, D. R. Flower, G. Morgan, and P. C. Beverley. 2001. A deletion in the gene encoding the CD45 antigen in a patient with SCID. J. Immunol. 166:1308-1313.
31. Toyabe, S.-I., A. Watanabe, W. Harada, T. Karasawa, and M. Uchiyama. 2001. Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signaling. Immunology 103:164-171.
32. Tsukada, S., D. C. Saffran, D. J. Rawlings, O. Parolini, R. C. Allen, I. Klisak, R. S. Sparkes, H. Kubagawa, T. Mohandas, S. Quan, J. W. Belmont, M. D. Cooper, M. E. Conley, and O. N. Witte. 1993. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279-290.
33. Weiss, A., and A. L. DeFranco. 1999. Signal transduction by T and B lymphocyte antigen receptors, p. 66-81. In H. D. Ochs, C. I. E. Smith, and J. M. Puck (ed.), Primary Immunodeficiency Diseases: a Molecular and Genetic Approach. Oxford University Press, New York, N.Y.
34. Zhang, W., J. Sloan-Lancaster, J. Kitchen, R. P. Trible, and L. E. Samelson. 1998. LAT: the ZAP-70 tyrosine kinase substrate that links T cell receptor to cellular activation. Cell 92:83-92.