The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity

Arthritis and Rheumatism

Volumn 60, Issue 2, 2009, Pages 611-618

  Martin, Tammy M ^a   Zhang, Zili ^a   Kurz, Paul ^a   Rose, Carlos D ^b   Chen, Hong ^a   Lu, Huiying ^a   Planck, Stephen R ^a   Davey, Michael P ^a,c   Rosenbaum, James T ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c PORTLAND VA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ADALIMUMAB; BRIMONIDINE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CORTICOSTEROID; CYCLOSPORIN; DORZOLAMIDE PLUS TIMOLOL; ETANERCEPT; INFLIXIMAB; INTERLEUKIN 1BETA; METHOTREXATE; METHYLPREDNISOLONE; NAPROXEN; OMEPRAZOLE; PREDNISOLONE ACETATE; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; ROFECOXIB;

ADULT; AGED; ARTICLE; BLAU SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DRUG DOSE INCREASE; DRUG WITHDRAWAL; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INFLAMMATION; LIVER BIOPSY; LIVER TOXICITY; MALE; MUTATIONAL ANALYSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; PROTEIN FUNCTION; PRURITUS; TREATMENT OUTCOME; VISUAL DISORDER;

ADULT; AGED; ANTIRHEUMATIC AGENTS; ARTHRITIS; CELLS, CULTURED; CHILD; DERMATITIS; FEMALE; GENE EXPRESSION; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; INTERLEUKIN-1BETA; LEUKOCYTES, MONONUCLEAR; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; RNA, MESSENGER; SYNDROME; TREATMENT FAILURE; UVEITIS; YOUNG ADULT;

EID: 59649127380     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24222     Document Type: Article

References (44)

1. Creagh EM, O'Neill LA. TLRs, NLRs and RLRs: a trinity of pathogen sensors that co-operate in innate immunity. Trends Immunol 2006;27:352-7.
2. Fritz JH, Ferrero RL, Philpott DJ, Girardin SE. Nod-like proteins in immunity, inflammation and disease. Nat Immunol 2006;7: 1250-7.
3. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5.
4. Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, et al. 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 2002;46:2445-52.
5. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, 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 2002;46:3340-8.
6. Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002;70: 1498-506.
7. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71:198-203.
8. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319-25.
9. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med 2006;355: 581-92.
10. Matsubayashi T, Sugiura H, Arai T, Oh-Ishi T, Inamo Y. Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006;95:246-9.
11. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607-12.
12. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779-85.
13. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006;142:1591-7.
14. Matsubara T, Hasegawa M, Shiraishi M, Hoffman HM, Ichiyama T, Tanaka T, et al. A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents. Arthritis Rheum 2006;54:2314-20.
15. Mirault T, Launay D, Cuisset L, Hachulla E, Lambert M, Queyrel V, et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 2006;54:1697-700.
16. O'Connell SM, O'Regan GM, Bolger T, Hoffman HM, Cant A, Irvine AD, et al. Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol 2007;24:85-9.
17. Rigante D, Ansuini V, Caldarelli M, Bertoni B, La Torraca I, Stabile A. Hydrocephalus in CINCA syndrome treated with anakinra. Childs Nerv Syst 2006;22:334-7.
18. Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis 2006;65:533-4.
19. Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S, et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 2001;357:1925-8.
20. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
21. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
22. Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-57.
23. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
24. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107:689-93.
25. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985;78:801-4.
26. Miller JJ III. Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": the same disease. J Pediatr 1986;109:387-8.
27. Rose CD, Wouters CH, Meiorin S, Doyle TM, Davey MP, Rosenbaum JT, et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 2006;54:3337-44.
28. Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y. Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol 2004;122:851-2.
29. Rose CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, et al. Blau syndrome mutation of CARD15/ NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005;32:373-5.
30. Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 2003;100:3455-60.
31. Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome. Blood 2005;105:1195-7.
32. Martinon F, Agostini L, Meylan E, Tschopp J. Identification of bacterial muramyl dipeptide as activator of the NALP3/cryopyrin inflammasome. Curr Biol 2004;14:1929-34.
33. Pan Q, Mathison J, Fearns C, Kravchenko VV, Da Silva Correia J, Hoffman HM, et al. MDP-induced interleukin-1β processing requires Nod2 and CIAS1/NALP3. J Leukoc Biol 2007;82:177-83.
34. Arostegui JI, Arnal C, Merino R, Modesto C, Carballo MA, Moreno P, et al. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum 2007;56:3805-13.
35. Uehara A, Yang S, Fujimoto Y, Fukase K, Kusumoto S, Shibata K, et al. Muramyldipeptide and diaminopimelic acid-containing desmuramylpeptides in combination with chemically synthesized Toll-like receptor agonists synergistically induced production of interleukin-8 in a NOD2- and NOD1-dependent manner, respectively, in human monocytic cells in culture. Cell Microbiol 2005;7:53-61.
36. Watanabe T, Kitani A, Murray PJ, Strober W. NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol 2004;5:800-8.
37. Wolfert MA, Murray TF, Boons GJ, Moore JN. The origin of the synergistic effect of muramyl dipeptide with endotoxin and peptidoglycan. J Biol Chem 2002;277:39179-86.
38. Ewida AS, Raphael SA, Abbasi JA, Geslani GP, Bagasra O. Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. Appl Immunohistochem Mol Morphol 2002;10:171-7.
39. Raphael SA, Blau EB, Zhang WH, Hsu SH. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child 1993;147:842-8.
40. Tada H, Aiba S, Shibata K, Ohteki T, Takada H. Synergistic effect of Nod1 and Nod2 agonists with Toll-like receptor agonists on human dendritic cells to generate interleukin-12 and T helper type 1 cells. Infect Immun 2005;73:7967-76.
41. Lala S, Ogura Y, Osborne C, Hor SY, Bromfield A, Davies S, et al. Crohn's disease and the NOD2 gene: a role for Paneth cells. Gastroenterology 2003;125:47-57.
42. Ogura Y, Lala S, Xin W, Smith E, Dowds TA, Chen FF, et al. Expression of NOD2 in Paneth cells: a possible link to Crohn's ileitis. Gut 2003;52:1591-7.
43. Davey MP, Martin TM, Planck SR, Lee J, Zamora D, Rosenbaum JT. Human endothelial cells express NOD2/CARD15 and increase IL-6 secretion in response to muramyl dipeptide. Microvasc Res 2006;71:103-7.
44. Rosenzweig HL, Martin TM, Planck SR, Galster K, Jann MM, Davey MP, et al. Activation of NOD2 in vivo induces IL-1β production in the eye via caspase-1 but results in ocular inflammation independently of IL-1 signaling. J Leukoc Biol 2008;84:529-36.