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Caspase-10 mutations in the autoimmune lymphoproliferative syndrome type II

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Immunology and Liver

Part of the book series: Falk Symposium ((FASS,volume 114))

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Abstract

Apoptosis plays an essential role in maintaining homeostasis in lymphocytes. Antigen-provoked apoptosis of lymphocytes, or propricidal regulation, can be mediated by Fas (CD95/APO-1), tumour necrosis factor receptor (TNFR) and related molecules1-5. Other death ligands such as TRAIL and its corresponding death receptors DR4 and DR5 are expressed in immune cells, but their physiological functions are not well understood6-11. Recent experiments suggest that the fate of specialized antigen-presenting cells is also regulated during immune responses. Ingulli et al. (1997) have shown that antigen-bearing dendritic cells directly interact with antigen-specific T cells resulting in T cell activation and disappearance of the dendritic cells12. Because dendritic cells are potent stimulators of B cells and T cells, their turnover may be essential for regulating immune responses13. However, currently little is known about how this process is regulated.

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References

  1. Chinnaiyan AM, Dixit VM. Portrait of an executioner: the molecular mechanism of FAS/APO-1-induced apoptosis. Semin Immunol. 1997;9:69–76.

    Article  PubMed  CAS  Google Scholar 

  2. Russell JH, Rush B, Weaver C, Wang R. Mature T cells of autoimmune 1pr/1pr mice have a defect in antigen-stimulated suicide. Proc Natl Acad Sci USA. 1993;90:4409–4413.

    Article  PubMed  CAS  Google Scholar 

  3. Zheng L, Fisher G, Miller RE, Peschon J, Lynch DH, Lenardo MJ. Induction of apoptosis in mature T cells by tumour necrosis factor. Nature. 1995;377:348–351.

    Article  PubMed  CAS  Google Scholar 

  4. MJ. Lenardo. Fas and the art of lymphocyte maintenance. J Exp Med. 1996;183:721–724.

    Article  Google Scholar 

  5. Wang J., M. J. Lenardo. Molecules involved in cell death and peripheral tolerance. Curr Opin Immunol. 1997;9: 818–825.

    Article  PubMed  CAS  Google Scholar 

  6. Wiley SR, Schooley K, Smolak PJ et al Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity. 1995;3:673–682.

    Article  PubMed  CAS  Google Scholar 

  7. Pan G, O‘Rourke K, Chinnaiyan AM et al. The receptor for the cytotoxic ligand TRAIL. Science. 1997;276:111–113.

    Article  PubMed  CAS  Google Scholar 

  8. Sheridan JP, Marsters SA, Pitti RM et al. Control of TRAIL-induced apoptosis by a family of signaling and decoy receptors. Science. 1997;277:818–821.

    Article  PubMed  CAS  Google Scholar 

  9. MacFarlane M, Ahmad M, Srinivasula SM et al. Identification and molecular cloning of two novel receptors for the cytotoxic ligand TRAIL. J Biol Chem. 1997;272:25417–25420.

    Article  PubMed  CAS  Google Scholar 

  10. Marsters SA, Sheridan JP, Pitti RM et al. A novel receptor for Apo2L/TRAIL contains a truncated death domain. Curr Biol. 1997;7:1003–1006.

    Article  PubMed  CAS  Google Scholar 

  11. Thomas WD, Hersey P. TNF-related apoptosis-inducing ligand (TRAIL) induces apoptosis in Fas ligand-resistant melanoma cells and mediates CD4 T cell killing of target cells. J Immunol. 1998;161:2195–2200.

    PubMed  CAS  Google Scholar 

  12. Ingulli E, Mondino A, Khoruts A, Jenkins MK. In vivodetection of dendritic cell antigen presentation to CD4(+) T cells. J Exp Med. 1997;185:2133–2141.

    Article  PubMed  CAS  Google Scholar 

  13. Banchereau J, Steinman RM. Dendritic cells and the control of immunity. Nature. 1998;392:245–252.

    Article  PubMed  CAS  Google Scholar 

  14. Bettinardi A, Brugnoni D, E. Quiros-Roldan et al Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood. 1997;89:902–909.

    PubMed  CAS  Google Scholar 

  15. Drappa J, Vaishnaw AK, SulliVan KE, Chu JL, Elkon KB. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med. 1996;335:1643–1649.

    Article  PubMed  CAS  Google Scholar 

  16. Fisher GH, Rosenberg FJ, Straus SE et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81:935–946.

    Article  PubMed  CAS  Google Scholar 

  17. Kasahara Y, Wada T, Niida Y et al Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol. 1998;10:195–202.

    Article  PubMed  CAS  Google Scholar 

  18. Rieux-Laucat F, Diest FL, Roberts IA, Debatin KM, Fisher A, Villartay JR Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995;268:1347–1351.

    Article  PubMed  CAS  Google Scholar 

  19. Sneller MC, Wang J, Dale JK et al. Clincial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood. 1997;89:1341–1348.

    PubMed  CAS  Google Scholar 

  20. Straus SE, Lenardo MJ, Puck JM, Strober W, Sneller MC. Autoimmune lymphoproliferative syndrome: an inherited disorder of lymphocyte apoptosis. Ann Intern Med. 1999 (In press).

    Google Scholar 

  21. Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest. 1996;98:1107–1113.

    Article  PubMed  CAS  Google Scholar 

  22. Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature. 1992;356:314–317.

    Article  PubMed  CAS  Google Scholar 

  23. Takahashi T, Tanaka M, Brannan CI et al. Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell. 1994;76:969–976.

    Article  PubMed  CAS  Google Scholar 

  24. Lynch DH, Watson ML, Alderson MR et al. The mouse Fas-ligand gene is mutated in gld mice and is part of a TNF family gene cluster. Immunity. 1994;1:131–136.

    Article  PubMed  CAS  Google Scholar 

  25. Boldin MP, Goncharov TM, Goltsev YV, Wallach D. Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1-and TNF receptor-induced cell death. Cell. 1996;85:803–815

    Article  PubMed  CAS  Google Scholar 

  26. Juo P, Kuo CJ, Yuan J, Blenis J. Essential requirement for caspase-8/FLICE in the initiation of the Fas-induced apoptotic cascade. Curr Biol. 1998;8:1001–1008.

    Article  PubMed  CAS  Google Scholar 

  27. Muzio M, Chinnaiyan AM, Kischkel FC et al. FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell. 1996:85:817–827.

    Article  PubMed  CAS  Google Scholar 

  28. Varfolomeev EE, Schuchmann M, Luria V et al. Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apol, and DR3 and is lethal prena-tally. Immunity. 1998;9:267–276.

    Article  PubMed  CAS  Google Scholar 

  29. Fernandes-Alnemri T, Armstrong RC, Krebs J et al. In-vitroactivation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. Proc Nate Acad Sci USA. 1996;93:7464–7469.

    Article  CAS  Google Scholar 

  30. Vincenz C, Dixit VM. Fas-associated death domain protein interleukin-1 beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95-and p55-mediated death signaling. J Biol Chem. 1997;272:6578–6583.

    Article  PubMed  CAS  Google Scholar 

  31. Wang J, Zheng L, Lobito A et al. Inherited human CASPASE10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999;96 (In press).

    Google Scholar 

  32. Walczak H, Miller RE, Ariail K et al. Tumoricidal activity of tumor necrosis factor-related apoptosis-inducing ligand in vivo [See comments]. Nat Med. 1999;5:157–163.

    Article  PubMed  CAS  Google Scholar 

  33. Chaudhary PM, Eby M, Jasmin A, Bookwalter A, Murray J, Hood L. Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-kappaB pathway. Immunity. 1997;7:821–830.

    Article  PubMed  CAS  Google Scholar 

  34. Schneider P, Thome M, Burns K et al. TRAIL receptors 1 (DR4) and 2 (DR5) signal FADD-dependent apoptosis and activate NF-kappaB. Immunity. 1997;7:831–836.

    Article  PubMed  CAS  Google Scholar 

  35. Irmler M, Thome M, Hahne M et al. Inhibition of death receptor signals by cellular FLIP. Nature. 1997;388:190–195.

    Article  PubMed  CAS  Google Scholar 

  36. Rasper DM, Vaillancourt JP, Hadano S et al. Cell death attenuation by ‘Usurpin’, a mammallian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Different. 1998;5:271–288.

    Article  CAS  Google Scholar 

  37. Shu HB, Halpin DR, Goeddel DV. Casper is a FADD-and caspase-related inducer of apoptosis. Immunity. 1997;6:751–763.

    Article  PubMed  CAS  Google Scholar 

  38. Srinivasula SM, Ahmad M, Ottilie S et al. FLAME-1, a novel FADD-like anti-apoptotic molecule that regulates Fas/TNFR1-induced apoptosis. J Biol Chem. 1997;272:18542–18545.

    Article  PubMed  CAS  Google Scholar 

  39. Anderson DM, Maraskovsky E, Billingsley WL et al. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature. 1997;390:175–179.

    Article  PubMed  CAS  Google Scholar 

  40. Wong BR, Josien R, Lee SY et al. TRANCE (tumor necrosis factor [TNF]-related activation-induced cytokine), a new TNF family member predominantly expressed in T cells, is a dendritic cell-specific survival factor. J Exp Med. 1997;186:2075–2080.

    Article  PubMed  CAS  Google Scholar 

  41. Marsters SA, Pitti RM, Donahue CJ, Ruppert S, Bauer KD, Ashkenazi A. Activation of apop-tosis by Apo-2 ligand is independent of FADD but blocked by CrmA. Curr Biol. 1996;6:750–752.

    Article  PubMed  CAS  Google Scholar 

  42. Griffith TS, Wiley SR, Kubin MZ, Sedger LM, Maliszewski CR, Fanger NA. Monocyte-mediated tumoricidal activity via the tumor necrosis factor-related cytokine, TRAIL J Exp Med. 1999;189:1343–1354.

    Article  CAS  Google Scholar 

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Wang, J., Lenardo, M.J. (2000). Caspase-10 mutations in the autoimmune lymphoproliferative syndrome type II. In: Manns, M.P., Paumgartner, G., Leuschner, U. (eds) Immunology and Liver. Falk Symposium, vol 114. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4000-3_4

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  • DOI: https://doi.org/10.1007/978-94-011-4000-3_4

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-5768-4

  • Online ISBN: 978-94-011-4000-3

  • eBook Packages: Springer Book Archive

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