Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

Cell

Volumn 98, Issue 1, 1999, Pages 47-58

  Wang, Jin ^a   Zheng, Lixin ^a   Lobito, Adrian ^a   Chan, Francis Ka Ming ^a   Dale, Janet ^a   Sneller, Michael ^a   Yao, Xu ^c   Puck, Jennifer M ^b   Straus, Stephen E ^a   Lenardo, Michael J ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 10; CYSTEINE PROTEINASE; FAS LIGAND; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; CONTROLLED STUDY; DENDRITIC CELL; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LYMPHOCYTE; LYMPHOPROLIFERATIVE DISEASE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0033538475     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)80605-4     Document Type: Article

References (67)

1. Abbas, A.K. (1996). Die and let live: eliminating dangerous lymphocytes. Cell 84, 655-657.
2. Alnemri, E.S., Livingston, D.U., Nicholson, D.W., Salvesen, G., Thornberry, N.A., Wong, W.W., andYuan, J. (1996). Human ICE/CED-3 protease nomenclature. Cell 87, 171.
3. Anderson, D.M., Maraskovsky, E., Billingsley, W.L, Dougall, W.C., Tometsko, M.E., Roux, E.R., Teepe, M.C., DuBose, R.F., Cosman, D., andGalibert, L. (1997). A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature 390, 175-179.
4. Banchereau, J., andSteinman, R.M. (1998). Dendritic cells and the control of immunity. Nature 392, 245-252.
5. Bartz, S.R., andVodicka, M .A. (1997). Production of high-liter human immunodeficiency virus type 1 pseudotyped with vesicular stomatitis virus glycoprotein. Methods 12, 337-342.
6. Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., andNotarangelo, LD. (1997). Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 89, 902-909.
7. Boldin, M.P., Goncharov, T.M., Goltsev, Y.V., andWallach, D. (1996). Involvement of MACH, a novel MORT1 FADD-interacting protease, in Fas/APO-1- and TNF receptor-induced cell death. Cell 85, 803-815.
8. Chaudhary, P.M., Eby, M., Jasmin, A., Bookwalter, A., Murray, J., andHood, L. (1997). Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-κB pathway. Immunity 7, 821-830.
9. Chinnaiyan, A.M., andDixit, V.M. (1997). Portrait of an executioner: the molecular mechanism of FAS/APO-1-induced apoptosis. Semin. Immunol. 9, 69-76.
10. Cohen, P.L., andEisenberg, R.A. (1991). Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu. Rev. Immunol. 9, 243-269.
11. Dianzani, U., Bragardo, M., DiFranco, D., Alliaudi, C., Scagni, P., Buonfiglio, D., Redoglia, V., Bonissoni, S., Correra, A., Dianzani, I., andRamenghi, U. (1997). Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood 89, 2871-2879.
12. Drappa, J., Vaishnaw, A.K., Sullivan, K.E., Chu, J.L, and Elkon, K.B. (1996). Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N. Engl. J. Med. 335, 1643-1649.
13. Fernandes-Alnemri, T., Armstrong, R.C., Krebs, J., Srinivasula, S.M., Wang, L., Bullrich, F., Fritz, L.C., Trapani, J.A., Tomaselli, K.J., Litwack, G., andAlnemri, E.S. (1996). In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. Proc. Acad. Nat. Sci. USA 93, 7464-7469.
14. Finer, M.H., Dull, T.J., Qin, L., Farson, D., Roberts, M.R. (1994). kat: a high-efficiency retroviral transduction system for primary human T lymphocytes. Blood 83, 43-50.
15. Fisher, G.H., Rosenberg, F.J., Straus, S.E., Dale, J.K., Middleton, LA., Lin, A.Y., Strober, W., Lenardo, M.J., andPuck, J.M. (1995). Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935-946.
16. Ghayur, T., Banerjee, S., Hugunin, M., Butler, D., Herzog, L., Carter, A., Quintal, L., Sekut, L., Talanian, R., Paskind, M., et al. (1997). Caspase-1 processes IFN-gamma-inducing factor and regulates LPS-induced IFN-gamma production. Nature 386, 619-623.
17. Goltsev, Y.V., Kovalenko, A.V., Arnold, E., Varfolomeev, E.E., Brodianskii, V.M , and Wallach, D. (1997). CASH, a novel caspase homologue with death effector domains. J. Biol. Chem. 272, 19641-19644.
18. Griffith, T.S., Wiley, S.R., Kubin, M.Z., Sedger, L.M., Maliszewski, C.R., andFanger, N.A. (1999). Monocyte-mediated tumoricidal activity via the tumor necrosis factor-related cytokine, TRAIL. J. Exp. Med. 189, 1343-1354.
19. Hakem, R., Hakem, A., Duncan, G.S., Henderson, J.T., Woo, M., Soengas, M.S., Elia, A., de la Pompa, J.L., Kagi, D., Khoo, W., et al. (1998). Differential requirement for caspase 9 in apoptotic pathways in vivo. Cell 94, 339-352.
20. Horvitz, H.R., Shaham, S., andHengartner, M.O. (1994). The genetics of programmed cell death in the nematode Caenorhabditis elegans. Cold Spring Harb. Symp. Quant. Biol. 59, 377-385.
21. Ingulli, E., Mondino, A., Khoruts, A., andJenkins, M.K. (1997). In vivo detection of dendritic cell antigen presentation to CD4( ) T cells. J. Exp. Med. 185, 2133-2141.
22. Irmler, M., Thome, M., Hahne, M., Schneider, P., Hofmann, K., Steiner, V., Bodmer, J.L., Schroter, M., Burns, K., Mattmann, C., et al. (1997). Inhibition of death receptor signals by cellular FLIP. Nature 388, 190-195.
23. Jackson, C.E., Fischer, R.E., Hsu, A.P., Anderson, S.M., Choi, Y., Wang, J., Dale, J.K., Fleisher, T.A., Middelton, L.A., Sneller, M.C., et al. (1999). Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am. J. Hum. Genet. 64, 1002-1014.
24. Juo, P., Kuo, C.J., Yuan, J., andBlenis, J. (1998). Essential requirement for caspase-8/FLICE in the initiation of the Fas-induced apoptotic cascade. Curr. Biol. 8, 1001-1008.
25. Kasahara, Y., Wada, T., Niida, Y., Yachie, A., Seki, H., Ishida, Y., Sakai, T., Koizumi, F., Koizumi, S., Miyawaki, T., andTaniguchi, N. (1998). Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int. Immunol. 10, 195-202.
26. Kotze, M.J., Loubser, O., Thiart, R., de Villiers, J.N., Langenhoven, E., Theart, L., Steyn, K., Marais, A.D., andRaal, F.J. (1997). CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. Clin. Genet. 51, 394-398.
27. Kuida, K., Zheng, T.S., Na, S., Kuan, C., Yang, D., Karasuyama, H., Rakic, P., andFlavell, R.A. (1996). Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice. Nature 384, 368-372.
28. Kuida, K., Haydar, T.F., Kuan, C.Y., Gu, Y., Taya, C., Karasuyama, H., Su, M.S., Rakic, P., andFlavell, R.A. (1998). Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9. Cell 94, 325-337.
29. Lenardo, M.J. (1996). Fas and the art of lymphocyte maintenance. J. Exp. Med. 183, 721-724.
30. Lenardo, M.J. (1997). The molecular regulation of lymphocyte apoptosis. Semin. Immunol. 9, 1-5.
31. Li, P., Allen, H., Banerjee, S., Franklin, S., Herzog, L., Johnston, C., McDowell, J., Paskind, M., Rodman, L., Salfeld, J., et al. (1995). Mice deficient in IL-1 beta-converting enzyme are defective in production of mature IL-1 beta and resistant to endotoxic shock. Cell 80, 401-411.
32. Lim, M.S., Straus, S.E., Dale, J.K., Fleisher, T.A., Stetler-Stevenson, M., Strober, W., Sneller, M.C., Puck, J.M., Lenardo, M.J., Elenitoba-Johnson, K.S.J., et al. (1998). Pathological findings in human autoimmune lymphoproliferative syndrome. Am. J. Pathol. 153, 1541-1550.
33. Lynch, D.H., Watson, M.L., Alderson, M.R., Baum, P.R., Miller, R.E., Tough, T., Gibson, M., Davis-Smith, T., Smith, C.A., Hunter, K., et al. (1994). The mouse Fas-ligand gene is mutated in gld mice and is part of a TNF family gene cluster. Immunity 1, 131-136.
34. MacFarlane, M., Ahmad, M., Srinivasula, S.M., Fernandes-Alnemri, T., Cohen, G.M., andAlnemri, E.S. (1997). Identification and molecular cloning of two novel receptors for the cytotoxic ligand TRAIL. J. Biol. Chem. 272, 25417-25420.
35. Marsters, S.A., Pitti, R.M., Donahue, C.J., Ruppert, S., Bauer, K.D., andAshkenazi, A. (1996). Activation of apoptosis by Apo-2 ligand is independent of FADD but blocked by CrmA. Curr. Biol. 6, 750-752.
36. Montgomery, R.I., Warner, M.S., Lum, B.J., Spear, P.G. (1994). Herpes simplex virus-1 entry into cells mediated by a novel member of the TNF/NGF receptor family. Cell 87, 427-436.
37. Muzio, M., Chinnaiyan, A.M., Kischkel, F.C., O'Rourke, K., Shevchenko, A., Ni, J., Scaffidi, C., Bretz, J.D., Zhang, M., Gentz, R., et al. (1996). FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell 85, 817-827.
38. Nicholson, D., andThornberry, N. (1997). Caspases: killer proteases. TIBS 22, 299-306.
39. Pan, G., Ni, J., Wei, Y.F., Yu, G., Gentz, R., andDixit, V.M. (1997). An antagonist decoy receptor and a death domain-containing receptor for TRAIL. Science 277, 815-818.
40. Pitti, R.M., Marsters, S.A., Ruppert, S., Donahue, C.J., Moore, A., andAshkenazi, A. (1996). Induction of apoptosis by Apo-2 ligand, a new member of the tumor necrosis factor cytokine family. J. Biol. Chem. 271, 12687-12690.
41. Rasper, D.M., Vaillancourt, J.P., Hadano, S., Houtzager, V.M., Seiden, I., Keen, S.L.C., Tawa, P., Xanthoudakis, S., Nasir, J., Martindale, D., et al. (1998). Cell death attenuation by "Usuipin," a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Differ. 5, 271-288.
42. Rieux-Laucat, F., Diest, F.L, Roberts, I.A., Debatin, K.M., Fisher, A., andVillartay, J.P. (1995). Mutations in Fas-associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347-1351.
43. Rotonda, J., Nicholson, D.W., Fazil, K.M., Gallant, M., Gareau, Y., Labelle, M., Peterson, E.P., Rasper, D.M., Ruel, R., Vaillancourt, J.P., Thornberry, N.A., andBecker, J.W. (1996). The three-dimensional structure of apopain CPP32, a key mediator of apoptosis. Nat. Struct. Biol. 3, 619-625.
44. Russell, J.H., andWang, R. (1993). Autoimmune gld mutation uncouples suicide and cytokine proliferation pathways in activated, mature T cells. Eur. J. Immunol. 23, 2379-2382.
45. Sallusto, F., andLanzavecchia, A. (1994). Efficient presentation of soluble antigen by cultured human dendritic cells is maintained by granulocyte/macrophage colony-stimulating factor plus interleukin 4 and downregulated by tumor necrosis factor alpha. J. Exp. Med. 179, 1109-1118.
46. Schneider, P., Thome, M., Burns, K., Bodmer, J.L., Hofmann, K., Kataoka, T., Holler, N., andTschopp, J. (1997). TRAIL receptors 1 (DR4) and 2 (DR5) signal FADD-dependent apoptosis and activate NF-κB. Immunity 7, 831-836.
47. Sheridan, J.P., Marsters, S.A., Pitti, R.M., Gurney, A., Skubatch, M., Baldwin, D., Ramakrishnan, L., Gray, C.L., Baker, K., Wood, W.I., et al. (1997). Control of TRAIL-induced apoptosis by a family of signaling and decoy receptors . Science 277, 818-821.
48. Shu, H.B., Halpin, D.R., andGoeddel, D.V. (1997). Casper is a FADD- and caspase-related inducer of apoptosis. Immunity 6, 751-763.
49. Sneller, M.C., Wang, J., Dale, J.K., Strober, W., Middelton, L.A., Choi, Y., Fleisher, T.A., Lim, M.S., Jaffe, E.S., Puck, J.M., Lenardo, M.J., andStraus, S.E. (1997). Clincial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89, 1341-1348.
50. Srinivasula, S.M., Ahmad, M., Ottilie, S., Bulllich, F., Banks, S., Wang, Y., Fernandes-Alnemri, T., Grace, C.M., Litwack, G., Tomaselli, K.J., Armstrong, R.C., andAlnemri, E.S. (1997). FLAME-1, a novel FADD-like anti-apoptotic molecule that regulates Fas TNFR1-induced apoptosis. J. Biol. Chem. 272, 18542-18545.
51. Straus, S.E., Lenardo, M.J., Puck, J.M., Strober, W., andSneller, M.C. (1999). Autoimmune lymphoproliferative syndrome: an inherited disorder of lymphocyte apoptosis. Ann. Int. Med. 130, 591-601.
52. Takahashi, T., Tanaka, M., Brannan, C.I., Jenkins, N.A., Copeland, N.G., Suda, T., Nagata, S. (1994). Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell 76, 969-976.
53. Thomas, W.D., andMersey, P. (1998). 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. 161, 2195-2200.
54. Thompson, C.B. (1995). Apoptosis in the pathogenesis and treatment of disease. Science 267, 1456-1462.
55. Vaishnaw, A.K., Orlinick, J.R., Chu, J.L, Krammer, P.M., Chao, M.V., andElkon, K.B. (1999). The molecular basis for apoptotic defects in patients with CD95 (Fas Apo-1) mutations. J. Clin. Invest. 103, 355-363.
56. Varfolomeev, E.E., Schuchmann, M., Luria, V., Chiannilkulchai, N., Beckmann, J.S., Mett, I.L., Rebrikov, D., Brodianski, V.M., Kemper, O.C., Kollet, O., et al. (1998). Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas Apo1, and DR3 and is lethal prenatally. Immunity 9, 267-276.
57. Vincenz, C., andDixit, V.M. (1997). Fas-associated death domain protein inter leukin-1 beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling. J. Biol. Chem. 272, 6578-6583.
58. Walczak, H., M Miller, R.E., Ariail, K., Gliniak, B., Griffith, T.S., Kubin, M., Chin, W., Jones, J., Woodward, A., Le, T., et al. (1999). Tumoricidal activity of tumor necrosis factor-related apoptosis-inducing ligand in vivo. Nat. Med. 5, 157-163.
59. Walker, N.P., Talanian, R.V., Brady, K.D., Dang, L.C., Bump, N.J., Ferenz, C.R., Franklin, S., Ghayur, T., Hackett, M.C., Hammill, L.D., et al. (1994). Crystal structure of the cysteine protease interleukin-1 beta-converting enzyme: a (p20 p10)2 homodimer. Cell 78, 343-352.
60. Wang, J., andLenardo, M.J. (1997). Essential lymphocyte function associated 1 (LFA-1): intercellular adhesion molecule interactions for T cell-mediated B cell apoptosis by Fas/APO-1/CD95. J. Exp. Med. 186, 1171-1176.
61. Wang, S., Miura, M., Jung, Y.K., Zhu, H., Li, E., andYuan, J. (1998). M urine caspase-11, an ICE-interacting protease, is essential for the activation of ICE. Cell 92, 501-509.
62. Watanabe-Fukunaga, R., Brannan, C.I., Copeland, N.G., Jenkins, N.A., andNagata, S. (1992). Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature 356, 314-317.
63. Wiley, S.R., Schooley, K., Smolak, P.J., Din, W.S., Huang, C.P., Nicholl, J.K., Sutherland, G.R., Smith, T.D., Rauch, C., Smith, C.A., andGoodwin, R.G. (1995). Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity 3, 673-682.
64. Wong, B.R., Rho, J., Arron, J., Robinson, E., Orlinick, J., Chao, M., Kalachikov, S., Cayani, E., Bartlett, F.S.r., Frankel, W.N., Lee, S.Y., andChoi, Y. (1997). TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells. J. Biol. Chem. 272, 25190-25194.
65. Wu, J., Wilson, J., He, J., Xiang, L., Schur, P.M., andMountz, J.D. (1996). Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J. Clin. Invest. 98, 1107-1113.
66. Yuan, J., Shaham, S., Ledoux, S., Ellis, H.M., andHorvitz, H.R. (1993). The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interleukin-1 beta-converting enzyme. Cell 75, 641-652
67. Zheng, L., Fisher, G., Miller, R.E., Peschon, J., Lynch, D.H., andLenardo, M.J. (1995). Induction of apoptosis in mature T cells by tumour necrosis factor. Nature 377, 348-351.