From inflammasomes to fevers, crystals and hypertension: how basic research explains inflammatory diseases

Trends in Molecular Medicine

Volumn 13, Issue 9, 2007, Pages 381-388

  McDermott, Michael F ^a   Tschopp, Jürg ^b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; INFLAMMASOME; INTERLEUKIN 1BETA CONVERTING ENZYME; MULTIPROTEIN COMPLEX; PROTEIN NALP14; PROTEIN NALP3; PROTEIN NALP7; PROTEIN NLR; RECEPTOR PROTEIN; TOLL LIKE RECEPTOR; UNCLASSIFIED DRUG;

AUTOINFLAMMATORY DISEASE; CHROMOSOME 17; CINCA SYNDROME; CROHN DISEASE; DISEASE PREDISPOSITION; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENETIC DISORDER; GOUT; HUMAN; HYDATIDIFORM MOLE; HYPERTENSION; IMMUNE RESPONSE; INFLAMMATION; INNATE IMMUNITY; INTRACYTOPLASMIC SPERM INJECTION; MEDICAL RESEARCH; MUCKLE WELLS SYNDROME; NON INSULIN DEPENDENT DIABETES MELLITUS; PAPA SYNDROME; PATHOGENESIS; PROTEIN FUNCTION; PSEUDOGOUT; REVIEW; VITILIGO;

ANIMALS; DIABETES MELLITUS, TYPE 2; FEVER; HUMANS; HYPERTENSION; INFLAMMATION; MODELS, BIOLOGICAL; NOD SIGNALING ADAPTOR PROTEINS;

EID: 34548522759     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2007.07.005     Document Type: Review

References (57)

1. Akira S., et al. Pathogen recognition and innate immunity. Cell 124 (2006) 783-801
2. Hugot J.P. CARD15/NOD2 mutations in Crohn's disease. Ann. N. Y. Acad. Sci. 1072 (2006) 9-18
3. Fritz J.H., et al. Nod-like proteins in immunity, inflammation and disease. Nat. Immunol. 7 (2006) 1250-1257
4. Baumgart D.C., and Carding S.R. Inflammatory bowel disease: cause and immunobiology. Lancet 369 (2007) 1627-1640
5. Meylan E., et al. Intracellular pattern recognition receptors in the host response. Nature 442 (2006) 39-44
6. Martinon F., and Tschopp J. Inflammatory caspases and inflammasomes: master switches of inflammation. Cell Death Differ. 14 (2007) 10-22
7. Ting J.P., and Davis B. CATERPILLER: a novel gene family important in immunity, cell death, and diseases. Annu. Rev. Immunol. 23 (2005) 387-414
8. Inohara, et al. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease. Annu. Rev. Biochem. 74 (2005) 355-383
9. Mariathasan S., and Monack D.M. Inflammasome adaptors and sensors: intracellular regulators of infection and inflammation. Nat. Rev. Immunol. 7 (2007) 31-40
10. Martinon F., et al. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-β. Mol. Cell 10 (2002) 417-426
11. Agostini L., et al. NALP3 forms an IL-1β processing inflammasome with increased activity in Muckle-Wells auto-inflammatory disorder. Immunity 20 (2004) 319-325
12. Dinarello C.A. Interleukin-1 β, interleukin-18, and the interleukin-1 β converting enzyme. Ann. N. Y. Acad. Sci. 856 (1998) 1-11
13. Schmitz J., et al. IL-33, an interleukin-1-like cytokine that signals via the IL-1 receptor-related protein ST2 and induces T helper type 2-associated cytokines. Immunity 23 (2005) 479-490
14. Martinon F., et al. Identification of bacterial muramyl dipeptide as activator of the NALP3/cryopyrin inflammasome. Curr. Biol. 14 (2004) 1929-1934
15. Martinon F., et al. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440 (2006) 237-241
16. Mariathasan S., et al. Cryopyrin activates the inflammasome in response to toxins and ATP. Nature 440 (2006) 228-232
17. Chae J.J., et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 9982-9987
18. Chae J.J., et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol. Cell 11 (2003) 591-604
19. Samuels J., et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 77 (1998) 268-297
20. Kummer J.A., et al. Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J. Histochem. Cytochem. 55 (2007) 443-452
21. Kastner D.L. Hereditary periodic fever syndromes. Hematology Am. Soc. Hematol. Educ. Program (2005) 74-81
22. Neven B., et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 103 (2004) 2809-2815
23. Aksentijevich I., et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 46 (2002) 3340-3348
24. Saito M., et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 52 (2005) 3579-3585
25. Fujisawa A., et al. Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells. Blood 109 (2007) 2903-2911
26. Hawkins P.N., et al. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N. Engl. J. Med. 348 (2003) 2583-2584
27. Goldbach-Mansky R., et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N. Engl. J. Med. 355 (2006) 581-592
28. Hoffman H.M., and Firestein G.S. Anakinra for the treatment of neonatal-onset multisystem inflammatory disease. Nat. Clin. Pract. Rheumatol. 2 (2006) 646-647
29. Hawkins P.N., et al. Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum. 50 (2004) 2708-2709
30. Thornton B.D., et al. Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. Am. J. Kidney Dis. 49 (2007) 477-481
31. Dierselhuis M.P., et al. Anakinra for flares of pyogenic arthritis in PAPA syndrome. Rheumatology (Oxford) 44 (2005) 406-408
32. Centola M., et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95 (2000) 3223-3231
33. Papin S., et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1β processing. Cell Death Differ. 14 (2007) 1457-1466
34. Shoham N.G., et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 13501-13506
35. Wise C.A., et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum. Mol. Genet. 11 (2002) 961-969
36. Pastores G.M., et al. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J. Pediatr. 117 (1990) 403-408
37. So A., et al. A pilot study of IL-1 inhibition by anakinra in acute gout. Arthritis Res. Ther. 9 (2007) R28
38. Jin Y., et al. NALP1 in vitiligo-associated multiple autoimmune disease. N. Engl. J. Med. 356 (2007) 1216-1225
39. Nath S.K., et al. Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. Am. J. Hum. Genet. 69 (2001) 1401-1406
40. Slim R., and Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease. Clin. Genet. 71 (2007) 25-34
41. Murdoch S., et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat. Genet. 38 (2006) 300-302
42. Larsen C.M., et al. Interleukin-1-receptor antagonist in Type 2 diabetes mellitus. N. Engl. J. Med. 356 (2007) 1517-1526
43. Omi T., et al. An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension. Eur. J. Hum. Genet. 14 (2006) 1295-1305
44. Faustin B., et al. Reconstituted NALP1 inflammasome reveals two-step mechanism of caspase-1 activation. Mol. Cell 25 (2007) 713-724
45. Petrilli, V. et al. Activation of the NALP3 inflammasome is triggered by low intracellular potassium concentrations. Cell Death Differ. (in press)
46. Sutterwala F.S., et al. Critical role for NALP3/CIAS1/cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity 24 (2006) 317-327
47. Watanabe H., et al. Activation of the IL-1β-processing inflammasome is involved in contact hypersensitivity. J. Invest. Dermatol. 127 (2007) 1956-1963
48. Bodar E.J., et al. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth. J. Med. 63 (2005) 260-264
49. Pascual V., et al. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J. Exp. Med. 201 (2005) 1479-1486
50. Rudinskaya A., and Trock D.H. Successful treatment of a patient with refractory adult-onset still disease with anakinra. J. Clin. Rheumatol. 9 (2003) 330-332
51. Fitzgerald A.A., et al. Rapid responses to anakinra in patients with refractory adult-onset Still's disease. Arthritis Rheum. 52 (2005) 1794-1803
52. Coskun M., et al. Specific interleukin-1 gene polymorphisms in Turkish patients with Behcet's disease. Exp. Dermatol. 14 (2005) 124-129
53. de Koning H.D., et al. Beneficial response to anakinra and thalidomide in Schnitzler's syndrome. Ann. Rheum. Dis. 65 (2006) 542-544
54. Ogura Y., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411 (2001) 603-606
55. Hugot J.P., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411 (2001) 599-603
56. Carter J.D., et al. Crohn disease worsened by anakinra administration. J. Clin. Rheumatol. 9 (2003) 276-277
57. Westerveld G.H., et al. Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Hum. Reprod. 21 (2006) 3178-3184