Genetic and molecular basis of inflammasome-mediated disease

Journal of Biological Chemistry

Volumn 286, Issue 13, 2011, Pages 10889-10896

  Hoffman, Hal M ^a   Brydges, Susannah D ^b  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; CRYOPYRIN; INFLAMMASOME; INTERLEUKIN 1BETA;

AUTOINFLAMMATORY DISEASE; CINCA SYNDROME; CYTOKINE RELEASE; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNE RESPONSE; INFLAMMATORY DISEASE; INNATE IMMUNITY; MOLECULAR GENETICS; MUCKLE WELLS SYNDROME; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; PROTEIN INDUCTION; PROTEIN PROTEIN INTERACTION; PROTEIN SECRETION; PROTEIN STRUCTURE; SHORT SURVEY; SIGNAL TRANSDUCTION; TRANSLATIONAL RESEARCH;

ANIMALS; FEVER; GENETIC DISEASES, INBORN; HUMANS; IMMUNITY, INNATE; INFLAMMASOMES; INFLAMMATION; INTERLEUKIN-1BETA; LUNG DISEASES;

EID: 79953219478     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.R110.135491     Document Type: Short Survey

References (93)

1. Dinarello, C. A. (2009) Annu. Rev. Immunol. 27, 519-550
2. Masters, S. L., Simon, A., Aksentijevich, I., and Kastner, D. L. (2009) Annu. Rev. Immunol. 27, 621-668
3. Bernot, A., Clepet, C., Dasilva, C., Devaud, C., Petit, J. L., Caloustian, C., Cruaud, C., Samson, D., Pulcini, F., Weissenbach, J., Heilig, R., Notanicola, C., Domingo, C., Rozenbaum, M., Benchetrit, E., Topaloglu, R., Dewalle, M., Dross, C., Hadjari, P., Dupont, M., Demaille, J., Touitou, I., Smaoui, N., Nedelec, B., Méry, J. P., Chaabouni, H., Delpech, M., and Grateau, G. (1997) Nat. Genet. 17, 25-31
4. International FMF Consortium (1997) Cell 90, 797-807
5. McDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., McCarthy, J., Frucht, D. M., Aringer, M., Torosyan, Y., Teppo, A. M., Wilson, M., Karaarslan, H. M., Wan, Y., Todd, I., Wood, G., Schlimgen, R., Kumarajeewa, T. R., Cooper, S. M., Vella, J. P., Amos, C. I., Mulley, J., Quane, K. A., Molloy, M. G., Ranki, A., Powell, R. J., Hitman, G. A., O'Shea, J. J., and Kastner, D. L. (1999) Cell 97, 133-144
6. Drenth, J. P., Cuisset, L., Grateau, G., Vasseur, C., van de Velde-Visser, S. D., de Jong, J. G., Beckmann, J. S., van der Meer, J. W., and Delpech, M. (1999) Nat. Genet. 22, 178-181
7. Houten, S. M., Kuis, W., Duran, M., de Koning, T. J., van Royen-Kerkhof, A., Romeijn, G. J., Frenkel, J., Dorland, L., de Barse, M. M., Huijbers, W. A., Rijkers, G. T., Waterham, H. R., Wanders, R. J., and Poll-The, B. T. (1999) Nat. Genet. 22, 175-177
8. Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A., and Kolodner, R. D. (2001) Nat. Genet. 29, 301-305
9. Hoffman, H. M., Wanderer, A. A., and Broide, D. H. (2001) J. Allergy Clin. Immunol. 108, 615-620
10. Shinkai, K., McCalmont, T. H., and Leslie, K. S. (2008) Clin. Exp. Dermatol. 33, 1-9
11. Hoffman, H. M., Wright, F. A., Broide, D. H., Wanderer, A. A., and Kolodner, R. D. (2000) Am. J. Hum. Genet. 66, 1693-1698
12. Aksentijevich, I., Nowak, M., Mallah, M., Chae, J. J., Watford, W. T., Hofmann, S. R., Stein, L., Russo, R., Goldsmith, D., Dent, P., Rosenberg, H. F., Austin, F., Remmers, E. F., Balow, J. E., Jr., Rosenzweig, S., Komarow, H., Shoham, N. G., Wood, G., Jones, J., Mangra, N., Carrero, H., Adams, B. S., Moore, T. L., Schikler, K., Hoffman, H., Lovell, D. J., Lipnick, R., Barron, K., O'Shea, J. J., Kastner, D. L., and Goldbach-Mansky, R. (2002) Arthritis Rheum. 46, 3340-3348
13. Feldmann, J., Prieur, A. M., Quartier, P., Berquin, P., Certain, S., Cortis, E., Teillac-Hamel, D., Fischer, A., and de Saint Basile, G. (2002) Am. J. Hum. Genet. 71, 198-203
14. Li, P., Nijhawan, D., Budihardjo, I., Srinivasula, S. M., Ahmad, M., Alnemri, E. S., and Wang, X. (1997) Cell 91, 479-489
15. Steimle, V., Otten, L. A., Zufferey, M., and Mach, B. (1993) Cell 75, 135-146
16. Martinon, F., Mayor, A., and Tschopp, J. (2009) Annu. Rev. Immunol. 27, 229-265
17. Martinon, F., Burns, K., and Tschopp, J. (2002) Mol. Cell 10, 417-426
18. Agostini, L., Martinon, F., Burns, K., McDermott, M. F., Hawkins, P. N., and Tschopp, J. (2004) Immunity 20, 319-325
19. Mariathasan, S., Newton, K., Monack, D. M., Vucic, D., French, D. M., Lee, W. P., Roose-Girma, M., Erickson, S., and Dixit, V. M. (2004) Nature 430, 213-218
20. Aksentijevich, I., Putnam, C. D.., Remmers, E. F., Mueller, J. L., Le, J., Kolodner, R. D., Moak, Z., Chuang, M., Austin, F., Goldbach-Mansky, R., Hoffman, H. M., and Kastner, D. L. (2007) Arthritis Rheum. 56, 1273-1285
21. Terra, J. K., Cote, C. K., France, B., Jenkins, A. L., Bozue, J. A., Welkos, S. L., LeVine, S. M., and Bradley, K. A. (2010) J. Immunol. 184, 17-20
22. Kim, S., Bauernfeind, F., Ablasser, A., Hartmann, G., Fitzgerald, K. A., Latz, E., and Hornung, V. (2010) Eur. J. Immunol. 40, 1545-1551
23. Mariathasan, S., Weiss, D. S., Newton, K., McBride, J., O'Rourke, K., Roose-Girma, M., Lee, W. P., Weinrauch, Y., Monack, D. M., and Dixit, V. M. (2006) Nature 440, 228-232
24. Craven, R. R., Gao, X., Allen, I. C., Gris, D., Bubeck Wardenburg, J., McElvania- Tekippe, E., Ting, J. P., and Duncan, J. A. (2009) PLoS ONE 4, e7446
25. Muñoz-Planillo, R., Franchi, L., Miller, L. S., and Núñez, G. (2009) J. Immunol. 183, 3942-3948
26. Duncan, J. A., Gao, X., Huang, M. T., O'Connor, B. P., Thomas, C. E., Willingham, S. B., Bergstralh, D. T., Jarvis, G. A., Sparling, P. F., and Ting, J. P. (2009) J. Immunol. 182, 6460-6469
27. Carneiro, L. A., Travassos, L. H., Soares, F., Tattoli, I., Magalhaes, J. G., Bozza, M. T., Plotkowski, M. C., Sansonetti, P. J., Molkentin, J. D., Philpott, D. J., and Girardin, S. E. (2009) Cell Host Microbe 5, 123-136
28. Miao, E. A., Mao, D. P., Yudkovsky, N., Bonneau, R., Lorang, C. G., Warren, S. E., Leaf, I. A., and Aderem, A. (2010) Proc. Natl. Acad. Sci. U.S.A. 107, 3076-3080
29. Sutterwala, F. S., Mijares, L. A., Li, L., Ogura, Y., Kazmierczak, B. I., and Flavell, R. A. (2007) J. Exp. Med. 204, 3235-3245
30. Akhter, A., Gavrilin, M. A., Frantz, L., Washington, S., Ditty, C., Limoli, D., Day, C., Sarkar, A., Newland, C., Butchar, J., Marsh, C. B., Wewers, M. D., Tridandapani, S., Kanneganti, T. D., and Amer, A. O. (2009) PLoS Pathog. 5, e1000361
31. Silveira, T. N., and Zamboni, D. S. (2010) Infect. Immun. 78, 1403-1413
32. Allen, I. C., Scull, M. A., Moore, C. B., Holl, E. K., McElvania-TeKippe, E., Taxman, D. J., Guthrie, E. H., Pickles, R. J., and Ting, J. P. (2009) Immunity 30, 556-565
33. Delaloye, J., Roger, T., Steiner-Tardivel, Q. G., Le Roy, D., Knaup Reymond, M., Akira, S., Petrilli, V., Gomez, C. E., Perdiguero, B., Tschopp, J., Pantaleo, G., Esteban, M., and Calandra, T. (2009) PLoS Pathog. 5, e1000480
34. Poeck, H., Bscheider, M., Gross, O., Finger, K., Roth, S., Rebsamen, M., Hannesschläger, N., Schlee, M., Rothenfusser, S., Barchet, W., Kato, H., Akira, S., Inoue, S., Endres, S., Peschel, C., Hartmann, G., Hornung, V., and Ruland, J. (2010) Nat. Immunol. 11, 63-69
35. Rathinam, V. A., Jiang, Z., Waggoner, S. N., Sharma, S., Cole, L. E., Waggoner, L., Vanaja, S. K., Monks, B. G., Ganesan, S., Latz, E., Hornung, V., Vogel, S. N., Szomolanyi-Tsuda, E., and Fitzgerald, K. A. (2010) Nat. Immunol. 11, 395-402
36. Thomas, P. G., Dash, P., Aldridge, J. R., Jr., Ellebedy, A. H., Reynolds, C., Funk, A. J., Martin, W. J., Lamkanfi, M., Webby, R. J., Boyd, K. L., Doherty, P. C., and Kanneganti, T. D. (2009) Immunity 30, 566-575
37. Lamkanfi, M., Malireddi, R. K., and Kanneganti, T. D. (2009) J. Biol. Chem. 284, 20574-20581
38. Gross, O., Poeck, H., Bscheider, M., Dostert, C., Hannesschläger, N., Endres, S., Hartmann, G., Tardivel, A., Schweighoffer, E., Tybulewicz, V., Mocsai, A., Tschopp, J., and Ruland, J. (2009) Nature 459, 433-436
39. Hise, A. G., Tomalka, J., Ganesan, S., Patel, K., Hall, B. A., Brown, G. D., and Fitzgerald, K. A. (2009) Cell Host Microbe 5, 487-497
40. Joly, S., Ma, N., Sadler, J. J., Soll, D. R., Cassel, S. L., and Sutterwala, F. S. (2009) J. Immunol. 183, 3578-3581
41. Dostert, C., Guarda, G., Romero, J. F., Menu, P., Gross, O., Tardivel, A., Suva, M. L., Stehle, J. C., Kopf, M., Stamenkovic, I., Corradin, G., and Tschopp, J. (2009) PLoS ONE 4, e6510
42. Griffith, J. W., Sun, T., McIntosh, M. T., and Bucala, R. (2009) J. Immunol. 183, 5208-5220
43. Shio, M. T., Tiemi Shio, M., Eisenbarth, S. C., Savaria, M., Vinet, A. F., Bellemare, M. J., Harder, K. W., Sutterwala, F. S., Bohle, D. S., Descoteaux, A., Flavell, R. A., and Olivier, M. (2009) PLoS Pathog. 5, e1000559
44. Latz, E. (2010) Curr. Opin Immunol. 22, 28-33
45. Duncan, J. A., Bergstralh, D. T., Wang, Y., Willingham, S. B., Ye, Z., Zimmermann, A. G., and Ting, J. P. (2007) Proc. Natl. Acad. Sci. U.S.A. 104, 8041-8046
46. Franchi, L., Eigenbrod, T., and Núñez, G. (2009) J. Immunol. 183, 792-796
47. Ferrari, D., Chiozzi, P., Falzoni, S., Dal Susino, M., Melchiorri, L., Baricordi, O. R., and Di Virgilio, F. (1997) J. Immunol. 159, 1451-1458
48. Pétrilli, V., Papin, S., Dostert, C., Mayor, A., Martinon, F., and Tschopp, J. (2007) Cell Death Differ. 14, 1583-1589
49. Martinon, F., Pétrilli, V., Mayor, A., Tardivel, A., and Tschopp, J. (2006) Nature 440, 237-241
50. Babelova, A., Moreth, K., Tsalastra-Greul, W., Zeng-Brouwers, J., Eickelberg, O., Young, M. F., Bruckner, P., Pfeilschifter, J., Schaefer, R. M., Gröne, H. J., and Schaefer, L. (2009) J. Biol. Chem. 284, 24035-24048
51. Yamasaki, K., Muto, J., Taylor, K. R., Cogen, A. L., Audish, D., Bertin, J., Grant, E. P., Coyle, A. J., Misaghi, A., Hoffman, H. M., and Gallo, R. L. (2009) J. Biol. Chem. 284, 12762-12771
52. Cassel, S. L., Eisenbarth, S. C., Iyer, S. S., Sadler, J. J., Colegio, O. R., Tephly, L. A., Carter, A. B., Rothman, P. B., Flavell, R. A., and Sutterwala, F. S. (2008) Proc. Natl. Acad. Sci. U.S.A. 105, 9035-9040
53. Dostert, C., Pétrilli, V., Van Bruggen, R., Steele, C., Mossman, B. T., and Tschopp, J. (2008) Science 320, 674-677
54. Eisenbarth, S. C., Colegio, O. R., O'Connor, W., Sutterwala, F. S., and Flavell, R. A. (2008) Nature 453, 1122-1126
55. Halle, A., Hornung, V., Petzold, G. C., Stewart, C. R., Monks, B. G., Reinheckel, T., Fitzgerald, K. A., Latz, E., Moore, K. J., and Golenbock, D. T. (2008) Nat. Immunol. 9, 857-865
56. Zhou, R., Tardivel, A., Thorens, B., Choi, I., and Tschopp, J. (2010) Nat. Immunol. 11, 136-140
57. Macaluso, F., Nothnagel, M., Parwez, Q., Petrasch-Parwez, E., Bechara, F. G., Epplen, J. T., and Hoffjan, S. (2007) Exp. Dermatol. 16, 692-698
58. Hitomi, Y., Ebisawa, M., Tomikawa, M., Imai, T., Komata, T., Hirota, T., Harada, M., Sakashita, M., Suzuki, Y., Shimojo, N., Kohno, Y., Fujita, K., Miyatake, A., Doi, S., Enomoto, T., Taniguchi, M., Higashi, N., Nakamura, Y., and Tamari, M. (2009) J. Allergy Clin. Immunol. 124, 779-785.e6
59. Schoultz, I., Verma, D., Halfvarsson, J., Törkvist, L., Fredrikson, M., Sjöqvist, U., Lördal, M., Tysk, C., Lerm, M., Söderkvist, P., and Söderholm, J. D. (2009) Am. J. Gastroenterol. 104, 1180-1188
60. Villani, A. C., Lemire, M., Fortin, G., Louis, E., Silverberg, M. S., Collette, C., Baba, N., Libioulle, C., Belaiche, J., Bitton, A., Gaudet, D., Cohen, A., Langelier, D., Fortin, P. R., Wither, J. E., Sarfati, M., Rutgeerts, P., Rioux, J. D., Vermeire, S., Hudson, T. J., and Franchimont, D. (2009) Nat. Genet. 41, 71-76
61. Lev-Sagie, A., Prus, D., Linhares, I. M., Lavy, Y., Ledger, W. J., and Witkin, S. S. (2009) Am. J. Obstet. Gynecol. 200, 301.e1-303.e6
62. Omi, T., Kumada, M., Kamesaki, T., Okuda, H., Munkhtulga, L., Yanagisawa, Y., Utsumi, N., Gotoh, T., Hata, A., Soma, M., Umemura, S., Ogihara, T., Takahashi, N., Tabara, Y., Shimada, K., Mano, H., Kajii, E., Miki, T., and Iwamoto, S. (2006) Eur. J. Hum. Genet. 14, 1295-1305
63. Jin, Y., Birlea, S. A., Fain, P. R., and Spritz, R. A. (2007) J. Invest. Dermatol. 127, 2558-2562
64. Jin, Y., Mailloux, C. M., Gowan, K., Riccardi, S. L., LaBerge, G., Bennett, D. C., Fain, P. R., and Spritz, R. A. (2007) N. Engl. J. Med. 356, 1216-1225
65. Touitou, I., Lesage, S., McDermott, M., Cuisset, L., Hoffman, H., Dode, C., Shoham, N., Aganna, E., Hugot, J. P., Wise, C., Waterham, H., Pugnere, D., Demaille, J., and Sarrauste de Menthiere, C. (2004) Hum. Mutat. 24, 194-198
66. Frenkel, J., van Kempen, M. J., Kuis, W., and van Amstel, H. K. (2004) Arthritis Rheum. 50, 2719-2720
67. Stack, J. H., Beaumont, K., Larsen, P. D., Straley, K. S., Henkel, G. W., Randle, J. C., and Hoffman, H. M. (2005) J. Immunol. 175, 2630-2634
68. Gattorno, M., Tassi, S., Carta, S., Delfino, L., Ferlito, F., Pelagatti, M. A., D'Osualdo, A., Buoncompagni, A., Alpigiani, M. G., Alessio, M., Martini, A., and Rubartelli, A. (2007) Arthritis Rheum. 56, 3138-3148
69. Brydges, S. D., Mueller, J. L., McGeough, M. D., Pena, C. A., Misaghi, A., Gandhi, C., Putnam, C. D., Boyle, D. L., Firestein, G. S., Horner, A. A., Soroosh, P., Watford, W. T., O'Shea, J. J., Kastner, D. L., and Hoffman, H. M. (2009) Immunity 30, 875-887
70. Meng, G., Zhang, F., Fuss, I., Kitani, A., and Strober, W. (2009) Immunity 30, 860-874
71. Hoffman, H. M., Rosengren, S., Boyle, D. L., Cho, J. Y., Nayar, J., Mueller, J. L., Anderson, J. P., Wanderer, A. A., and Firestein, G. S. (2004) Lancet 364, 1779-1785
72. Rosengren, S., Mueller, J. L., Anderson, J. P., Niehaus, B. L., Misaghi, A., Anderson, S., Boyle, D. L., and Hoffman, H. M. (2007) J. Allergy Clin. Immunol. 119, 991-996
73. Mayor, A., Martinon, F., De Smedt, T., Pétrilli, V., and Tschopp, J. (2007) Nat. Immunol. 8, 497-503
74. Harder, J., Franchi, L., Muñoz-Planillo, R., Park, J. H., Reimer, T., and Núñez, G. (2009) J. Immunol. 183, 5823-5829
75. Toma, C., Higa, N., Koizumi, Y., Nakasone, N., Ogura, Y., McCoy, A. J., Franchi, L., Uematsu, S., Sagara, J., Taniguchi, S., Tsutsui, H., Akira, S., Tschopp, J., Nunez, G., and Suzuki, T. (2010) J. Immunol. 184, 5287-5297
76. Yilmaz, O., Sater, A. A., Yao, L., Koutouzis, T., Pettengill, M., and Ojcius, D. M. (2010) Cell. Microbiol. 12, 188-198
77. Cruz, A. R., Moore, M. W., La Vake, C. J., Eggers, C. H., Salazar, J. C., and Radolf, J. D. (2008) Infect. Immun. 76, 56-70
78. Mishra, B. B., Moura-Alves, P., Sonawane, A., Hacohen, N., Griffiths, G., Moita, L. F., and Anes, E. (2010) Cell. Microbiol. 12, 1046-1063
79. Abdul-Sater, A. A., Koo, E., Häcker, G., and Ojcius, D. M. (2009) J. Biol. Chem. 284, 26789-26796
80. Saïd-Sadier, N., Padilla, E., Langsley, G., and Ojcius, D. M. (2010) PLoS ONE 5, e10008
81. Kumar, H., Kumagai, Y., Tsuchida, T., Koenig, P. A., Satoh, T., Guo, Z., Jang, M. H., Saitoh, T., Akira, S., and Kawai, T. (2009) J. Immunol. 183, 8061-8067
82. Franchi, L., and Núñez, G. (2008) Eur. J. Immunol. 38, 2085-2089
83. Hornung, V., Bauernfeind, F., Halle, A., Samstad, E. O., Kono, H., Rock, K. L., Fitzgerald, K. A., and Latz, E. (2008) Nat. Immunol. 9, 847-856
84. Kool, M., Pétrilli, V., De Smedt, T., Rolaz, A., Hammad, H., van Nimwegen, M., Bergen, I. M., Castillo, R., Lambrecht, B. N., and Tschopp, J. (2008) J. Immunol. 181, 3755-3759
85. Li, H., Willingham, S. B., Ting, J. P., and Re, F. (2008) J. Immunol. 181, 17-21
86. Gasse, P., Riteau, N., Charron, S., Girre, S., Fick, L., Pétrilli, V., Tschopp, J., Lagente, V., Quesniaux, V. F., Ryffel, B., and Couillin, I. (2009) Am. J. Respir. Crit. Care Med. 179, 903-913
87. Ghiringhelli, F., Apetoh, L., Tesniere, A., Aymeric, L., Ma, Y., Ortiz, C., Vermaelen, K., Panaretakis, T., Mignot, G., Ullrich, E., Perfettini, J. L., Schlemmer, F., Tasdemir, E., Uhl, M., Génin, P., Civas, A., Ryffel, B., Kanellopoulos, J., Tschopp, J., André, F., Lidereau, R., McLaughlin, N. M., Haynes, N. M., Smyth, M. J., Kroemer, G., and Zitvogel, L. (2009) Nat. Med. 15, 1170-1178
88. Iyer, S. S., Pulskens, W. P., Sadler, J. J., Butter, L. M., Teske, G. J., Ulland, T. K., Eisenbarth, S. C., Florquin, S., Flavell, R. A., Leemans, J. C., and Sutterwala, F. S. (2009) Proc. Natl. Acad. Sci. U.S.A. 106, 20388-20393
89. Li, H., Ambade, A., and Re, F. (2009) J. Immunol. 183, 1528-1532
90. Kanneganti, T. D., Body-Malapel, M., Amer, A., Park, J. H., Whitfield, J., Franchi, L., Taraporewala, Z. F., Miller, D., Patton, J. T., Inohara, N., and Núñez, G. (2006) J. Biol. Chem. 281, 36560-36568
91. Kanneganti, T. D., Ozören, N., Body-Malapel, M., Amer, A., Park, J. H., Franchi, L., Whitfield, J., Barchet, W., Colonna, M., Vandenabeele, P., Bertin, J., Coyle, A., Grant, E. P., Akira, S., and Núñez, G. (2006) Nature 440, 233-236
92. Feldmeyer, L., Keller, M., Niklaus, G., Hohl, D., Werner, S., and Beer, H. D. (2007) Curr. Biol. 17, 1140-1145
93. Caicedo, M. S., Desai, R., McAllister, K., Reddy, A., Jacobs, J. J., and Hallab, N. J. (2009) J. Orthop. Res. 27, 847-854