Autoinflammatory syndromes and infections: Pathogenetic and clinical implications

Clinical and Experimental Rheumatology

Volumn 26, Issue 1 SUPPL. 48, 2008, Pages

  Efthimiou, Petros ^a   Flavell, Richard A ^b   Furlan, Antonio ^c   Gasbarrini, Giovani ^d   Gava, Alessandra ^c   Koné Paut, Isabelle ^e   Manna, Raffaele ^d   Punzi, Leonardo ^c   Sutterwala, Fayyaz S ^f   Touitou, Isabelle ^e   Doria, Andrea ^c,g  

^a LINCOLN MEDICAL AND MENTAL HEALTH CENTER   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e BICÊTRE HOSPITAL   (France)

^f UNIVERSITY OF IOWA   (United States)

^g Division of Rheumatology   (Italy)

Author keywords

Adult onset Still's disease; Autoinflammatory; Biologic agents; CARD15; Caspase 1; Familial Mediterranean Fever; Granulomatous disease; Inflammasome; Mevalonate kinase deficiencies; NLRs; Tumor necrosis factor Receptor Associated Periodic Syndrome

Indexed keywords

ADALIMUMAB; ATLIZUMAB; AUTOANTIBODY; AZATHIOPRINE; COLCHICINE; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DISEASE MODIFYING ANTIRHEUMATIC DRUG; ETANERCEPT; GOLD SALT; HYDROXYCHLOROQUINE; INFLIXIMAB; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 1BETA CONVERTING ENZYME; LEFLUNOMIDE; METHOTREXATE; MEVALONATE KINASE; NONSTEROID ANTIINFLAMMATORY AGENT; PENICILLAMINE; PRAZOSIN; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SALAZOSULFAPYRIDINE; SEROTONIN UPTAKE INHIBITOR; STEROID; TACROLIMUS; THALIDOMIDE; TUMOR NECROSIS FACTOR ALPHA INHIBITOR; UNINDEXED DRUG;

ADULT ONSET STILL DISEASE; ALLOGENIC BONE MARROW TRANSPLANTATION; ANTIBODY BLOOD LEVEL; ANTIGEN SPECIFICITY; ANTIINFLAMMATORY ACTIVITY; AUTOINFLAMMATORY DISEASE; BLAU SYNDROME; COMPLEX FORMATION; CROHN DISEASE; DISEASE ASSOCIATION; DRUG DOSE INCREASE; DRUG MEGADOSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ENZYME ACTIVATION; ENZYME DEFICIENCY; FAMILIAL MEDITERRANEAN FEVER; GASTROINTESTINAL SYMPTOM; GRANULOMATOSIS; HUMAN; IMMUNE RESPONSE; IMMUNE SYSTEM; INFECTION; INFLAMMATION; INNATE IMMUNITY; LIVER TOXICITY; LOW DRUG DOSE; LOW FAT DIET; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; T LYMPHOCYTE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; UNSPECIFIED SIDE EFFECT;

AUTOIMMUNE DISEASES; FAMILIAL MEDITERRANEAN FEVER; HUMANS; INFECTION; INFLAMMATION; NOD SIGNALING ADAPTOR PROTEINS; STILL'S DISEASE, ADULT-ONSET;

EID: 42549120251     PISSN: 0392856X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (81)

1. KIM B, KAISTHA SD, ROUSE BT: Viruses and autoimmunity. Autoimmunity 2006; 39: 71-7.
2. GAIPL US, MUNOZ LE, GROSSMAYER G et al.: Clearance deficiency and systemic lupus erythematosus (SLE). J Autoimmun 2007; 28: 114-21.
3. KOIKE T, BOHGAKI M, AMENGUAL O, ATSUMI T: Antiphospholipid antibodies: lessons from the bench. J Autoimmun 2007; 28: 129-33.
4. EDWARDS CJ, COOPER C: Early environmental exposure and the development of lupus. Lupus 2006; 15: 814-9.
5. SELMI C: One year in autoimmunity. Autoimmun Rev. 2007; 7: 85-93.
6. SHEPSHELOVICH D, SHOENFELD Y: Prediction and prevention of autoimmune, diseases: Additional aspects of the mosaic of autoimmunity. Lupus 2006; 15: 183-90.
7. COPE AP, SCHULZE-KOOPS H, ARINGER M: The central role of T cells in rheumatoid arthritis. Clin Exp Rheumatol 2007; 25: S4-11.
8. BUGATTI S, CODULLO V, CAPORALI R, MONTECUCCO C: B cells in rheumatoid arthritis. Autoimmun Rev 2007; 7: 137-42.
9. MANZO A, PITZALIS C: Lymphoid tissue reactions in rheumatoid arthritis. Autoinimun Rev 2007; 7: 30-4.
10. FERRACCIOLI G, TOLUSSO B: Infections, B cell receptor activation and autoimmunity: Different check-point impairments lead to autoinummity, clonal B cell expansion and fibrosis in different immunological settings. Autoimmun Rev 2007; 7: 109-13.
11. BLANK M, SHOENFELD Y: B cell targeted therapy in autoimmunity. J Autoimmun 2007; 28: 62-8.
12. ABBAS AK, LOHR J, KNOECHEL B: Balancing autoaggressive and protective T cell responses. J Autoimmun 2007; 28: 59-61.
13. GALEAZZI M, GASBARRINI G, GHIRARDELLO A: Autoinflammatory syndromes. Clin Exp Rheumatol 2006; 24: S79-85.
14. JIN Y, MAILLOUX CM, GOWAN K et al.: NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med 2007; 356: 1216-25.
15. MARIATHASAN S, MONACK DM: Inflammasome adaptors and sensors: intracellular regulators of infection and inflammation. Nat Rev Immunol 2007; 7: 31-40.
16. MARTINON F, GAIDE O, PETRILLI V, MAYOR A, TSCHOPP J: NALP inflammasomes: a central role in innate immunity. Semin Immunopathol 2007; 29: 213-29.
17. KANNEGANTI TD, LAMKANFI M, KIM YG: Pannexin-1-mediated recognition of bacterial molecules activates the cryopyrin inflammasome independent of Toll-like receptor signaling. Immunity 2007; 26: 433-43.
18. FELDMEYER L, KELLER M, NIKLAUS G, HOHL D, WERNER S, BEER RD: The inflammasome mediates UVB-induced activation and secretion of interleukin-1beta by keratinocytes. Curr Biol 2007; 17: 1140-5.
19. SUZUKI T, FRANCHI L, TOMA C et al.: Differential regulation of caspase-1 activation, pyroptosis, and autophagy via Ipaf and ASC in Shigella-infected macrophages. PLoS Pathog 2007; 3: 1082-91.
20. SUTTERWALA F, MIJARES LA, LI L, OGURA Y, KAZMIERCZAK BI, FLAVELL RA: Immune recognition of pseudomonas aeruginosa mediated by the IPAF/NLRC4 inflammasome. J Exp Med 2007; 204: 3235-45.
21. FRANCHI L, STOOLMAN J, KANNEGANTI TD, VERMA A, RAMPHAL R, NUNEZ G: Critical role for Ipaf in Pseudomonas aeruginosa-induced caspase-1 activation. Eur J Immunol 2007; 37: 3030-9.
22. HENRY T, MONACK DM: Activation of the inflammasome upon Francisella tularensis infection: Interplay of innate immune pathways and virulence factors. Cell Microbiol 2007; 9: 2543-51.
23. MIAO EA, DNDERSEN-NISSEN E, WARREN SE, ADEREM A: TLR5 and Ipaf: dual sensors of bacterial flagellin in the innate immune system. Semin Immunopathol 2007; 29: 275-88.
24. EFTHIMIOU P, KONTZIAS A, WARD CM, OGDEN NS: Adult-onset Still's disease: can recent advances in our understanding of its pathogenesis lead to targeted therapy? Nat Clin Pract Rheumatol 2007; 3: 328-35.
25. EFTHIMIOU P, GEORGY S: Pathogenesis and management of adult-onset Still's disease. Semin Arthritis Rheum 2006; 36: 144-52.
26. CHEN DY, LAN JL, LIN FJ, HSIEH TY, WEN MC: Predominance of Thl cytokine in peripheral blood and pathological tissues of patients with active untreated adult onset Still's disease. Ann Rheum Dis 2004; 63: 1300-6.
27. LOTITO AP, SILVA CA, MELLO SB: Interleukin-18 in chronic joint diseases: Autoimmun Rev 2007; 6: 253-6.
28. POUCHOT J, SAMPALIS JS, BEAUDET F et al.: Adult Still's disease: manifestations, disease course, and outcome in 62 patients. Medicine (Baltimore) 1991; 70: 118-36.
29. LEE SW, PARK MC, KIM H, PARK YB, LEE SK: Dermatopathic lymphadenopathy in a patient with adult onset Still's disease. Clin Exp Rheumatol 2007; 25: 312-4.
30. YAMAGUCHI M, OHTA A, TSUNEMATSU T et al.: Preliminary criteria for classification of adult Still's disease. J Rheumatol 1992; 19: 424-30.
31. SCIRE CA, CAVAGNAL, PEROTTIC, BRUSCHI E, CAPORALI R, MONTECUCCO C: Diagnostic value of procalcitonin measurement in febrile patients with systemic autoimmune diseases. Clin Exp Rheumatol 2006; 24: 123-8.
32. FAUTREL B, LE MOEL G, SAINT-MARCOUX B et al.: Diagnostic value of ferritin and glycosylated ferritin in adult onset Still's disease. J Rheumatol 2001; 28: 322-9.
33. ZANDMAN- GODDARD G, SHOENFELD, Y: Ferritin in autoimmune diseases. Autoimmun Rev 2007; 6: 457-63.
34. EFFHIMIOU P, PAIK PK, BIELORY L: Diagnosis and management of adult onset Still's disease. Ann Rheum Dis 2006; 65: 564-72.
35. FAUTREL B, SIBILIA J, MARIETTE X, COMBE B: Tumour necrosis factor alpha blocking agents in refractory adult Still's disease: An observational study of 20 cases. Ann Rheum Dis 2005; 64: 262-6.
36. KÖTTER I, WACKER A, KOCH S et al.: Anakinra in patients with treatment-resistant adult-onset still's disease: Four case reports with serial cytokine measurements and a review of the literature. Semin Arthritis Rheum 2007; 37: 189-97.
37. IWAMOTO M, NARA H, HIRATA D, MINOTA S, NISHIMOTO N, YOSHIZAKI K: Humanized monoclonal anti-interleukin-6 receptor antibody for treatment of intractable adult-onset Still's disease. Arthritis Rheum 2002; 46: 3388-9.
38. GUIGNARD S, DIEN G, DOUGADOS M: Severe systemic inflammatory response syndrome in a patient with adult onset Still's disease treated with the anti-IL1 drug anakinra: A case report. Clin Exp Rheumatol 2007; 25: 758-9.
39. MICELI-RICHARD C, LESAGE S, RYBOJAD M et al.: CARD15 mutations in Blau syndrome. Nat Genet 2001; 29: 19-20.
40. ROSÉ CD, WOUTERS CH, MEIORIN S et al.: Pediatric ganulomatous arthritis. An international registry. Arthritis Rheum 2006; 54: 3337-44.
41. BLAU EB: Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985; 107: 689-93.
42. VAN DUIST MM, ALBRECHT M, PODSWIADEK M et al.: A new CARD 15 mutation in Blau syndrome. Eur J Hum Gen 2005; 13: 742-7.
43. AROSTEGUI JI, ARNAL C, MERINO R 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
44. OGURA Y, BONEN DK, INOHARA N et al.: A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411: 603-6.
45. GIRARDIN SE, BONECA IG, VIALA J et al.: Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 2003; 11: 8869-72
46. OGURA Y, INOHARA N, BENITO A, CHEN FF, YAMAOKA S, NUNEZ G: Nod2, a Nod1/ Apaf1 family member that is restricted to monocytes and activates NF-κB. J Biol Chem 2001; 276: 4812-8.
47. OZEN F: Familial Mediteranean Fever. Rheumat Internat 2006; 26: 489-96.
48. BEN-CHETRIT E: Familial Mediterranean fever. A bird's eye review of the recent literature. Clin Exp Rheumatol 2007; 25: S13-5.
49. ROZENBAUM M, TOUITOU I, PORTNOY E, MORKOS S, ROSNER I: A molecular basis for the absence of familial Mediterranean fever in Ethiopian Jews. Clin Exp Rheumatol 2006; 24:S127.
50. KOVÁCS G, TARJÁN E, MAGYAR P, NAGY E, MÜZES G, BEN-CHETRIT E: Identification of familial Mediterranean fever (IMF) in a Gipsy woman: A case report. Clin Exp Rheumatol 2007;25:S119.
51. TANAKA M, MIGITA K, MIYASHITA T et al.: Coexistence of familial Mediterranean fever and Sjögren's syndrome in a Japanese patient. Clin Exp Rheumatol. 2007; 25: 792.
52. LA REGINA M, NUCERA G, DIACO M et al.: Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2003; 11: 50-6.
53. THE INTERNATIONAL IMF CONSORTIUM: Ancient missense mutations in a new member of the RoRet Gene family are likely to cause Familial Mediterranean Fever. Cell 1997; 90: 797-807.
54. THE INTERNATIONAL FMF CONSORTIUM. A candidate gene for Familial Mediterranean fever. Nature genetics 1997; 17.
55. SHINKAI K, KILCLINE C, CONNOLLY MK et al.: The pyrin family of Fever Genes. Commentary. Arch Dermatol 2005; 141: 242-7.
56. BERKUN Y, BEN-CHETRIT E: Pyrin and cryopyrin-similar domain sequence but opposite inflammatory consequence. Clin Exp Rheumatol 2007; 25: S6-8.
57. STOJANOV S, KASTNER DL: FamilGal autoinflammatory disease: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005, 17: 586-99.
58. SAMUELS J, OZEN S: Familial Mediterranean Fever and other autoinflammatory syndromes: Evaluation of the patient with recurrent fever. Curr Op Rheumatol 2006; 18: 108-17.
59. BEN-CHETRIT E, BEN-CHETRIT A: Familial Mediterrranean fever and menstruation. BJOG 2001; 108: 403-7.
60. LIDAR M,AYAQUBOV M, ZAKS N et al.: The prodrome: a prominent yet overlooked preattack manifestation of Familial Mediterranean Fever. J Rheumatol 2006; 33: 6.
61. CERQUAGLIA C, DIACO M, NUCERA G et al.: Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: An update. Curr Drug Targets Inflamm Allergy 2005; 4: 117-24.
62. SAKALLIOGLU O, DUZOVA A, OZEN S: Etanercept in the treatment of arthritis in a patient with familial Mediterranean fever. Clin Exp Rheumatol 2006; 24: 435-7.
63. BHATT A, NAGUWA SM, GESHWIN ME: Genetics and new treatment modalities for Familial Mediterranean Fever. Ann N Y Acad Sci 2007; 1110: 201-8.
64. MOR A, PILLINGER MH, KISHIMOTO M et al.: Familial Mediterranean Fever successfully treated with etanercept. J Clin Rheumatol. 2007; 13: 38-40.
65. SEYAHI E, OZDOGAN H, CELIK S, UGURLU S, YAZICI H: Treatment options in colchicine resistant familial Mediterranean fever patients: Thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol 2006; 24: S99-103.
66. CALLIGARIS L, MARCHETTI F, TOMMASINI A et al.: The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. Eur J Pediatr 2007; June 23 [Epub ahead of print].
67. ONAT AM, OZTURK MA, OZCA̧KAR L et al.: Selective Serotonin Reuptake Inhibitors reduce the attack frequency in Familial Mediterranean Fever. J Exp Med 2007; 211: 9-14.
68. ONAT AM, OZCA̧KAR L, OZTÜRK MA et al.: Plasma and platelet serotonin levels in familial Mediterranean fever. Clin Exp Rheumatol 2007; 25: S16-20
69. SAKKALLIOLU O, GOK F, KALMAN S et al.: The phenotype-genotype correlations of FMF patients: A single centre study. Rheumatol Intern 2006; 26: 638-40.
70. HERSHKO AY, BEN-CAETRIT: The MEFV E148Q allele: a deleterious mutation or harmless variation? Clin Exp Rheumatol 2006; 24: S51-2.
71. KALYONCU M, ACAR BC, CAKAR N et al.: Are carriers for MEFV mutations "healthy"? Clin Exp Rheumatol 2006; 24: S120-2.
72. McDERMOTT MF, AKSENTIJEVICH I, GALON J et al.: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-44.
73. DODE C, ANDRE M, BIENVENU T et al.: The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46: 2181-8.
74. SIEBERT S, AMOS N, FIELDING CA et al.: Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. Arthritis Rheum 2005; 52: 1287-92.
75. D'OSUALDO, A, FERLITO F, PRIGIONE et al.: Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: Pathogenetic and clinical implications. Arthritis Rheum 2006; 54: 998-1008.
76. TODD I, RADFORD PM, DAFFA N, BRAIN-BRIDGE SE, POWELL RS, TIGHE PJ: Mutant tumor necrosis factor receptor associated with TRAPS is altered antigenically and is retained within patients leukocytes. Arthritis Rheum 2007, 56: 2765-73.
77. D'OSUALDO, A, PICCO P, CAROLI F et al.: MVK mutations and associated clinical features in Italian patients affected with auto-inflammatory disorders and recurrent fever. Eur J Med Genet 2005; 13: 314-20.
78. PRIETSCH V, MAYATEPEK E, KRASTEL H et al.: Mevalonate kinase deficiency: Enlarging the clinical and biochemical spectrum. Pediatrics 2003; 111: 258-61.
79. SCHNEIDERS MS, HOUTEN SM, TURKENBURG M, WANDERS RJA, WATERHAM HR: Manipulation of isoprenoid biosynthesis as possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum 2006; 54: 2306-13.
80. FRENKEL J, RIJKERS GT, MANDLEY SHL et al.: Lack of isoprenoid products raises ex vivo interleukin-1b secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis rheum 2002; 46: 2794-803
81. NEVEN B, VALAYANNOPOULOS V, QUARTIER P et al.: Allogenic bione marrow transplantation in mevalonic aciduria. N Engl J Med 2007; 356: 2700-3.