The NLR network and the immunological disease continuum of adaptive and innate immune-mediated inflammation against self

Seminars in Immunopathology

Volumn 29, Issue 3, 2007, Pages 303-313

  McGonagle, Dennis ^a,b   Savic, Sinisa ^a   McDermott, Michael F ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CASPASE RECRUITMENT DOMAIN PROTEIN 15; HLA B27 ANTIGEN; HLA C ANTIGEN; INTERLEUKIN 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; NOD LIKE RECEPTOR; RECEPTOR PROTEIN; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; AUTOIMMUNE DISEASE; CELLULAR DISTRIBUTION; CROHN DISEASE; CYTOKINE PRODUCTION; DISEASE ASSOCIATION; GENE FUNCTION; GENE MUTATION; GOUT; HUMAN; IMMUNOPATHOGENESIS; IMMUNOPATHOLOGY; INFLAMMATORY DISEASE; INNATE IMMUNITY; LYMPHOID ORGAN; NUCLEOTIDE BINDING SITE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; PSORIASIS; REVIEW; SPONDYLITIS; TISSUE SPECIFICITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; AUTOIMMUNE DISEASES; HUMANS; IMMUNITY, NATURAL; INFLAMMATION; SELF TOLERANCE;

EID: 34548675581     PISSN: 18632297     EISSN: 18632300     Source Type: Journal    
DOI: 10.1007/s00281-007-0084-1     Document Type: Review

References (61)

1. Gordon S (2002) Pattern recognition receptors: doubling up for the innate immune response. Cell 111(7):927-930
2. Akira S, Uematsu S, Takeuchi O (2006) Pathogen recognition and innate immunity. Cell 124(4):783-801
3. McGonagle D, McDermott MF (2006) A proposed classification of the immunological diseases. PLoS Med 3(8):e297
4. Fritz JH, Ferrero RL, Philpott DJ, Girardin SE (2006) Nod-like proteins in immunity, inflammation and disease. Nat Immunol 7(12):1250-1257
5. Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA (2007) NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 356(12):1216-1225
6. Aganna E, Martinon F, Hawkins PN et al (2002) Association of mutations in the NALP3/CIAS1/ PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 46:2445
7. Agostini L, Martinon F, Burns K et al (2004) NALP3 forms an IL-l beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20:319
8. Church LD, Churchman SM, Hawkins PH, McDermott MF (2006) Hereditary auto-inflammatory disorders and biologics. Springer Semin Immunopathol 27(4):494-508
9. Aksentijevich I, Centola M, Deng ZM et al (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797
10. Bernot A, Clepet C, Dasilva C et al (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25
11. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech HL, Kastner DL (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95(10):3223-3231
12. Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G (2003) Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 302:575-580
13. Gumucio DL, Diaz A, Schaner P et al (2002) Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol 20:S45
14. Stojanov S, Kastner DL (2005) Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 17:586
15. Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 11:961-969
16. Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA 100(23):13501-13506
17. McDermott MF (2004) A common pathway in periodic fever syndromes. Trends Immunol 25(9):457-460
18. Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA (1990) Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 117(3):403-408
19. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP (2001) CARD15 mutations in Blau syndrome. Nat Genet 29(1):19-20
20. Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood 105(3):1195-1197
21. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411(6837):603-606
22. Wehkamp J, Stange EF (2005) NOD2 mutation and mice: no Crohn's disease but many lessons to learn. Trends Mol Med 11(7):307-309
23. Lala S, Ogura Y, Osborne C, Hor SY, Bromfield A, Davies S, Ogunbiyi O, Nunez G, Keshav S (2003) Crohn's disease and the NOD2 gene: a role for Paneth cells. Gastroenterology 125:47-57
24. Seiderer J, Schnitzler F, Brand S, Staudinger T, Pfennig S, Herrmann K, Hofbauer K, Dambacher J, Tillack C, Sackmann M, Goke B, Lohse P, Ochsenkuhn T (2006) Homozygosity for the CARD15 frameshift mutation 1007fs is predictive of early onset of Crohn's disease with ileal stenosis, entero-enteral fistulas, and frequent need for surgical intervention with high risk of re-stenosis. Scand J Gastroenterol 41:1421-1432
25. Voss E, Wehkamp J, Wehkamp K, Stange EF, Schroder JM, Harder J (2006) NOD2/CARD15 mediates induction of the antimicrobial peptide human beta-defensin-2. J Biol Chem 281:2005-2011
26. Wehkamp J, Harder J, Weichenthal M, Schwab M, Schaffeler E, Schlee M, Herrlinger KR, Stallmach A, Noack F, Fritz P, Schroder JM, Bevins CL, Fellermann K, Stange EF (2004) NOD2 (CARD15) mutations in Crohn's disease are associated with diminished mucosal alpha-defensin expression. Gut 53(11):1658-1664
27. Hisamatsu T, Suzuki M, Reinecker HC, Nadeau WJ, McCormick BA, Podolsky DK (2003) CARD15/NOD2 functions as an antibacterial factor in human intestinal epithelial cells. Gastroenterology 124(4):993-1000
28. (2007) Is Crohn's disease due to defective immunity? Gut J 56(1):2-5
29. Folwaczny C, Glas J, Torok HP (2003) Crohn's disease: an immunodeficiency? Eur J Gastroenterol Hepatol 15(6):621-626
30. Huang JS, Noack D, Rae J, Ellis BA, Newbury R, Pong AL, Lavine JE, Curnutte JT, Bastian J (2004) Chronic granulomatous disease caused by a deficiency in p47(phox) mimicking Crohn's disease. Clin Gastroenterol Hepatol 2(8):690-695
31. Parkes M, Barrett JC, Prescott NJ et al (2007) Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 39(7):830-832 (Jun 6)
32. Maeda S, Hsu LC, Liu H, Bankston LA, Iimura M, Kagnoff MF, Eckmann L, Karin M (2005) Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing. Science 307(5710):734-738
33. Nos P, Bastida G, Beltran B, Aguas M, Ponce J (2006) Crohn's disease in common variable immunodeficiency: treatment with antitumor necrosis factor alpha. [Case Reports. Letter] Am J Gastroenterol 101(9):2165-2166
34. Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440(7081):237-241
35. Chen CJ, Shi Y, Hearn A, Fitzgerald K, Golenbock D, Reed G, Akira S, Rock KL (2006) MyD88-dependent IL-1 receptor signaling is essential for gouty inflammation stimulated by monosodium urate crystals. J Clin Invest 116(8):2262-2271
36. Akahoshi T, Murakami Y, Kitasato H (2007) Recent advances in crystal-induced acute inflammation. Curr Opin Rheumatol 19(2):146-150
37. McGonagle D, Tan AT, Shankaranarayana S, Madden J, Emery P, McDermott MF (2007) Management of treatment-resistant inflammation of acute-on-chronic tophaceous gout with anakinra Ann Rheum Dis (in press)
38. So A, De Smedt T, Revaz S, Tschopp J (2007) A pilot study of IL-1 inhibition by anakinra in acute gout. Arthritis Res Ther 12 9(2):R28
39. Watanabe T, Kitani A, Murray PJ, Strober W (2004) NOD2 is a negative regulator of toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol 5(8):800-808
40. Creagh EM, O'Neill LA (2006) TLRs, NLRs and RLRs: a trinity of pathogen sensors that co-operate in innate immunity. Trends Immunol 27(8):352-357
41. Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, Lee WP, Weinrauch Y, Monack DM, Dixit VM (2006) Cryopyrin activates the inflammasome in response to toxins and ATP. Nature 440(7081):228-232
42. Subramanian S, Tus K, Li QZ, Wang A, Tian XH, Zhou J, Liang C, Bartov G, McDaniel LD, Zhou XJ, Schultz RA, Wakeland EK (2006) A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc Natl Acad Sci USA 103(26):9970-9975
43. Pisitkun P, Deane JA, Difilippantonio MJ, Tarasenko T, Satterthwaite AB, Bolland SJ (2006) Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication. Science 312:1669-1672
44. Davey MP, Martin TM, Planck SR, Lee J, Zamora D, Rosenbaum JT (2006) Human endothelial cells express NOD2/CARD15 and increase IL-6 secretion in response to muramyl dipeptide. Microvasc Res 71(2):103-107
45. Torgerson TR, Ochs HD (2002) Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation. Curr Opin Allergy Clin Immunol 2(6):481-487
46. Anderson MS (2002) Autoimmune endocrine disease. Curr Opin Immunol 14:760-764
47. Rieux-Laucat F, Fischer A, Deist FL (2003) Cell-death signaling and human disease. Curr Opin Immunol 15(3):325-331
48. Cunninghame Graham DS, Vyse TJ (2004) The candidate gene approach: have murine models informed the study of human SLE? Clin Exp Immunol 137(1):1-7
49. Mathews CE (2005) Utility of murine models for the study of spontaneous autoimmune type 1 diabetes. Pediatr Diabetes 6(3):165-177
50. van den Berg WB (2005) Animal models of arthritis. What have we learned. J Rheumatol (Suppl 72):7-9
51. Sakaguchi S, Sakaguchi N (2005) Animal models of arthritis caused by systemic alteration of the immune system. Curr Opin Immunol 17(6):589-594
52. McLachlan SM, Nagayama Y, Rapoport B (2005) Insight into Graves' hyperthyroidism from animal models. Endocr Rev 26(6):800-832
53. Badami E, Maiuri L, Quaratino S (2005) High incidence of spontaneous autoimmune thyroiditis in immunocompetent self-reactive human T cell receptor transgenic mice. J Autoimmun 24(2):85-91
54. Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, Kastner DL, Screaton GR, Siegel RM (2006) Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 108(4):1320-1327
55. Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H (2006) A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38(1):41-47
56. Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L, Schropp P, Barth B, Yu P, Paffenholz R, Stumm G, Nehls M, Stanley ER (2006) Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 107(8):3350-3358
57. Matsuda M, Nakamura A, Tsuchiya S, Yoshida T, Horie S, Ikeda S (2006) Coexistence of familial Mediterranean fever and Behcet's disease in a Japanese patient. Intern Med 45(12):799-800
58. Rabinovich E, Shinar Y, Leiba M, Ehrenfeld M, Langevitz P, Livneh A (2007) Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis. Scand J Rheumatol 36(1):48-52
59. Jones G (2007) Susceptibility to asthma and eczema from mucosal and epidermal expression of distinctive genes. Curr Allergy Asthma Rep 7(1):11-17
60. Matziger P (2007) Friendly and dangerous signals: is the tissue in control? Nat Immunol 8(1):11-13
61. McGonagle D, Stockwin L, Isaacs J, Emery P (2001) An enthesitis based model for the pathogenesis of spondyloarthropathy. Addictive effects of microbial adjuvant and biochemical factors at disease sites. J Rheumatol 28:2155-2159 (Oct)