Clinical and biochemical landmarks in systemic autoinflammatory diseases

Annals of Medicine

Volumn 44, Issue 7, 2012, Pages 664-673

  Cantarini, Luca ^a   Rigante, Donato ^b   Brizi, Maria Giuseppina ^a   Lucherini, Orso Maria ^a   Sebastiani, Gian Domenico ^c   Vitale, Antonio ^a   Gianneramo, Valentina ^b   Galeazzi, Mauro ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c SAN CAMILLO FORLANINI HOSPITAL   (Italy)

Author keywords

Autoinflammatory diseases; Cytokines; Diagnosis; Serum amyloid A (SAA)

Indexed keywords

C REACTIVE PROTEIN; CALGRANULIN; COLCHICINE; CRYOPYRIN; ERYTHROMYCIN ESTOLATE; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; INTERLEUKIN 6; MEVALONATE KINASE; MEVALONIC ACID; SERUM AMYLOID A; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR INHIBITOR; TUMOR NECROSIS FACTOR RECEPTOR;

ABDOMINAL PAIN; ACNE CYSTICA; AMYLOIDOSIS; ANKLE ARTHRITIS; ARTHRALGIA; AUTOINFLAMMATORY DISEASE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; BACTERIAL ARTHRITIS; BLAU SYNDROME; CHROMOSOME 12; CHROMOSOME 16; CHRONIC KIDNEY FAILURE; CINCA SYNDROME; CONJUNCTIVITIS; COXITIS; DENDRITIC CELL; DIARRHEA; DOWN REGULATION; EOSINOPHIL; ERYTHEMA; EXON; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENE MUTATION; HEADACHE; HUMAN; HYPERGAMMAGLOBULINEMIA; HYPERGAMMAGLOBULINEMIA D SYNDROME; IATROGENIC DISEASE; INFLAMMATION; INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; IRRITABILITY; KNEE ARTHRITIS; LYMPHADENOPATHY; MAJEED SYNDROME; MEVALONATE KINASE DEFICIENCY; MONOCYTE; MUCKLE WELLS SYNDROME; NEPHROTIC SYNDROME; NEUTROPHIL; NLRP12 ASSOCIATED AUTOINFLAMMATORY DISORDER; ORTHOSTATIC HYPOTENSION; PAPA SYNDROME; PERIORBITAL EDEMA; PRIORITY JOURNAL; PYODERMA GANGRENOSUM; REVIEW; SEDIMENTATION RATE; SIMIAN ACQUIRED IMMUNODEFICIENCY SYNDROME; SKIN ABSCESS; SPLENOMEGALY; SYNDROME; T LYMPHOCYTE ACTIVATION; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; UVEITIS; VOMITING; WEAKNESS;

APOPTOSIS; AUTOANTIBODIES; AUTOIMMUNITY; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; IMMUNITY, INNATE; IMMUNOLOGIC TESTS; INFLAMMATION;

EID: 84868246282     PISSN: 07853890     EISSN: 13652060     Source Type: Journal    
DOI: 10.3109/07853890.2011.598546     Document Type: Review

References (77)

1. Touitou I, Koné -Paut I. Autoinfl ammatory diseases. Best Pract Res Clin Rheumatol. 2008;22:811-29.
2. Joost PH, van Der Meer JW. The infl ammasome: a linebacker of innate defense. N Engl J Med. 2006;355:730-2.
3. Rigante D. Autoinfl ammatory diseases in children. J Pediatr Sci. 2010;4:e65.
4. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinfl ammaticus: the molecular pathophysiology of autoinfl ammatory disease. Annu Rev Immunol. 2009;27:621-68.
5. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25-31.
6. Yepiskoposyan L, Harutyunyan A. Population genetics of familial Mediterranean fever: a review. Eur J Hum Genet. 2007;15:911-6.
7. Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, et al. Cryopyrin and pyrin activate caspase-1, but not NFkappaB, via ASC oligomerization. Cell Death Differ. 2006;13:236-49.
8. Chae JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood. 2008;112:1794-803.
9. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to infl ammatory mediators. Blood. 2000;95:3223-31.
10. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879-85.
11. Sayarlioglu M, Cefl e A, Inanc M, Kamali S, Dalkilic E, Gul A, et al. Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract. 2005;59:202-5.
12. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56:1706-12.
13. Cantarini L, Volpi N, Galeazzi M, Giani T, Fanti F, Lucherini OM, et al. Colchicine myopathy and neuromyopathy: two cases with different characteristics. J Clin Rheumatol. 2010;16:229-32.
14. C antarini L, Volpi N, Lucherini OM, Giannini F, Galeazzi M. A case of amyloid myopathy in a patient with familial Mediterranean fever. Clin Exp Rheumatol. 2009;27(2 Suppl 53):S106-7.
15. Rigante D, La Torraca I, Ansuini V, Compagnone A, Sallì A, Stabile A. The multi-face expression of familial Mediterranean fever. Eur Rev Med Pharmacol Sci. 2006;10:163-71.
16. van der Meer JM, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087-90.
17. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde- Visser SD, de Jong JG, et al. Mutations in the gene encodingmevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet. 1999;22:178-81.
18. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen- Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22:175-7.
19. Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its defi ciency. Biochim Biophys Acta. 2000;1529:19-32.
20. Goldstein JL, Brown MS. Regulation of the mevalonate pathway. Nature. 1990;343:425-30.
21. Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, et al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford). 2001;40:579-84.
22. Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, et al. Mevalonate kinase defi ciency and Dutch type periodic fever. Clin Exp Rheumatol. 2000;18:525-32.
23. Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial hibernian fever. Q J Med. 1982;51: 469-80.
24. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinfl ammatory disorder. Medicine (Baltimore). 2002;81: 349-68.
25. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, defi ne a family of dominantly inherited autoinfl ammatory syndromes. Cell. 1999;97:133-44.
26. Wajant H, Pfi zenmaier K, Scheurich P. Tumor necrosis factor signaling. Cell Death Differ. 2003;10:45-65.
27. Kimberley FC, Lobito AA, Siegel RM, Screaton GR. Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther. 2007;9:217.
28. DodéC, André M, Bienvenu T, Hausfater P, P ê cheux C, Bienvenu J, et al.; French Hereditary Recurrent Infl ammatory Disorder Study Group. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptorassociated periodic syndrome. Arthritis Rheum. 2002;46: 2181-8.
29. Aksentijevich I, Galon J, Soares M, Mansfi eld E, Hull K, Oh HH, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 2001;69:301-14.
30. 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.
31. Fritz JH. Nod-like proteins in immunity, infl ammation and disease. Nat Immunol. 2006;7:1250-7.
32. Hoffman HM, Wanderer AA, Bride DH. Familial cold autoinfl ammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615-20.
33. Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235-48.
34. Lepore L, Paloni G, Caorsi R, Alessio M, Rigante D, Ruperto N, et al. Follow-up and quality of life of patients with cryopyrin- associated periodic syndromes treated with anakinra. J Pediatr. 2010;157:310-5.
35. Ebrahimi-Fakhari D, Wahlster L, Mackensen F, Blank N. Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. J Rheumatol. 2010;37: 2196-7.
36. Jé ru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105:1614-9.
37. Tallon B, Corkill M. Peculiarities of PAPA syndrome. Rheumatology. 2006;45:1140-3.
38. Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42:551-7.
39. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinfl ammatory disease with defi ciency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360:2426-37.
40. Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, et al. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009;60:242-50.
41. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9:473-83.
42. G ershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profi le of familial Mediterranean fever. Eur J Hum Genet. 2002;10:145-9.
43. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, et al. The Infevers autoinfl ammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29:803-8.
44. Simon A, Mariman EC, van der Meer JWM, Drenth JP. A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. Am J Med. 2003;114:148-52.
45. Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum. 2006;54:2674-87.
46. Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273-85.
47. Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, et al. Clinical presentation and pathogenesis of cold-induced autoinfl ammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011;63:830-9.
48. Ferguson PJ, El-Shanti HI. Autoinfl ammatory bone disorders. Curr Opin Rheumatol. 2007;19:492-8.
49. Villanueva-Mendoza C, Arellanes-Garcí a L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Su á rez LF, Zenteno JC. Familial case of Blau syndrome associated with a CARD15/ NOD2 mutation. Ophthalmic Genet. 2010;31:155-8.
50. Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-infl ammatory syndromes. Hum Mutat. 2004;24:194-8.
51. Manukyan G, Ghazaryan K, Ktsoyan Z, Khachatryan Z, Kelly D, Tatyan M, et al. Comparative analysis of cytokine profi les in autoinfl ammatory and autoimmune conditions. Cytokine. 2010;50:146-51.
52. Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin Dsyndrome (mild mevalonate kinase defi ciency) in patients with recurrent fever. J Rheumatol. 2009;36:1677-81.
53. Haas D, Hoffmann GF. Mevalonate kinase defi ciencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.
54. Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, van der Meer JW, et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med. 2001;135:338-43.
55. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003;48:2632-44.
56. Lachmann HJ, Lowe P, Felix SD, Rordorf C, Leslie K, Madhoo S, et al. In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med. 2009;206:1029-36.
57. Rocken C, Shakespeare A. Pathology, diagnosis and pathogenesis of AA amyloidosis. Virchows Arch. 2002;440:111-22.
58. Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology. 2004;43:410-5.
59. Lachmann HJ, Gillmore JD. Renal amyloidosis. Br J Hosp Med (Lond). 2010;71:83-6.
60. Gillmore JD, Lovat LB, Persey MR, Pepys MB, Hawkins PN. Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet. 2001;358:24-9.
61. Aganna E, Hawkins PN, Ozen S, Pettersson T, Bybee A, McKee SA, et al. Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun. 2004;5:289-93.
62. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem infl ammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355:581-92.
63. Cantarini L, Rigante D, Lucherini OM, Cimaz R, Laghi Pasini F, Baldari CT, et al. Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature. Int J Immunopathol Pharmacol. 2010;23:701-7.
64. Pietzsch J, Hoppmann S. Human S100A12: a novel key player in infl ammation? Amino Acids. 2009;36:381-9.
65. Wittkowski H, Frosch M, Wulffraat N, Goldbach-Mansky R, Kallinich T, Kuemmerle-Deschner J, et al. S100A12 is a novel molecular marker differentiating systemic-onset juvenile idiopathic arthritis from other causes of fever of unknown origin. Arthritis Rheum. 2008;58:3924-31.
66. S imon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinfl ammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007;292:R86-98.
67. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A. 2006;103:9982-7.
68. Direskeneli H, Ozdogan H, Korkmaz C, Akoglu T, Yazici H. Serum soluble intercellular adhesion molecule 1 and interleukin 8 levels in familial Mediterranean fever. J Rheumatol. 1999;26:1983-6.
69. Kö k l ü S, Ozt ü rk MA, Balci M, Y ü ksel O, Ertenli I, Kiraz S. Interferon-gamma levels in familial Mediterranean fever. Joint Bone Spine. 2005;72:38-40.
70. Drenth JP, van Deuren M, van der Ven-Jongekrijg J, Schalkwijk CG, van der Meer JW. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood. 1995;85:3586-93.
71. Nowlan ML, Drewe E, Bulsara H, Esposito N, Robins RA, Tighe PJ, et al. Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A. Rheumatology (Oxford). 2006;45:31-7.
72. Baykal Y, Saglam K, Yilmaz MI, Taslipinar A, Akinci SB, Inal A. Serum IL-2r, IL-6, IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol. 2003;22:99-101.
73. Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, et al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an infl ammatory stimulus in monocytes from familial cold autoinfl ammatory syndrome patients. J Immunol. 2005;175:2630-4.
74. Rosengren S, Mueller JL, Anderson JP, Niehaus BL, Misaghi A, Anderson S, et al. Monocytes from familial cold autoinfl ammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol. 2007;119:991-6.
75. Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, et al. Infl ammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 2009;30:875-87.
76. Lachmann HJ, Koné -Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360:2416-25.
77. Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent effi cacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516-20.