Clinical and biochemical landmarks in systemic autoinflammatory diseases

References

• Touitou I, Koné-Paut I. Autoinflammatory diseases. Best Pract Res Clin Rheumatol. 2008;22:811–29.
   PubMed Web of Science ®Google Scholar
• Joost PH, van Der Meer JW. The inflammasome: a linebacker of innate defense. N Engl J Med. 2006;355:730–2.
   Google Scholar
• Rigante D. Autoinflammatory diseases in children. J Pediatr Sci. 2010;4:e65.
   Google Scholar
• Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621–68.
   PubMed Web of Science ®Google Scholar
• The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25–31.
   PubMed Web of Science ®Google Scholar
• Yepiskoposyan L, Harutyunyan A. Population genetics of familial Mediterranean fever: a review. Eur J Hum Genet. 2007;15:911–6.
   Web of Science ®Google Scholar
• Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, . Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ. 2006;13:236–49.
   PubMed Web of Science ®Google Scholar
• Chae JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, . 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.
   PubMed Web of Science ®Google Scholar
• Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, . The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood. 2000;95:3223–31.
   PubMed Web of Science ®Google Scholar
• Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, . Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879–85.
   PubMed Web of Science ®Google Scholar
• Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, . Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract. 2005;59:202–5.
   PubMed Web of Science ®Google Scholar
• Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, . Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56:1706–12.
   PubMed Web of Science ®Google Scholar
• Cantarini L, Volpi N, Galeazzi M, Giani T, Fanti F, Lucherini OM, . Colchicine myopathy and neuromyopathy: two cases with different characteristics. J Clin Rheumatol. 2010;16:229–32.
   PubMed Web of Science ®Google Scholar
• Cantarini 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.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• van der Meer JM, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, . Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087–90.
   PubMed Web of Science ®Google Scholar
• Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, . Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet. 1999;22:178–81.
   PubMed Web of Science ®Google Scholar
• Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, . Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22:175–7.
   PubMed Web of Science ®Google Scholar
• Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta. 2000;1529:19–32.
   PubMed Web of Science ®Google Scholar
• Goldstein JL, Brown MS. Regulation of the mevalonate pathway. Nature. 1990;343:425–30.
   PubMed Web of Science ®Google Scholar
• Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, . Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford). 2001;40:579–84.
   Google Scholar
• Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, . Mevalonate kinase deficiency and Dutch type periodic fever. Clin Exp Rheumatol. 2000;18:525–32.
   PubMed Web of Science ®Google Scholar
• Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial hibernian fever. Q J Med. 1982;51: 469–80.
   PubMedGoogle Scholar
• Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, . The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002;81: 349–68.
   PubMed Web of Science ®Google Scholar
• McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, . 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.
   PubMed Web of Science ®Google Scholar
• Wajant H, Pfizenmaier K, Scheurich P. Tumor necrosis factor signaling. Cell Death Differ. 2003;10:45–65.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, .; French Hereditary Recurrent Inflammatory Disorder Study Group. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2002;46:2181–8.
   PubMed Web of Science ®Google Scholar
• Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, . 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.
   PubMed Web of Science ®Google Scholar
• Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, . 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.
   PubMed Web of Science ®Google Scholar
• Fritz JH. Nod-like proteins in immunity, inflammation and disease. Nat Immunol. 2006;7:1250–7.
   PubMed Web of Science ®Google Scholar
• Hoffman HM, Wanderer AA, Bride DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615–20.
   PubMed Web of Science ®Google Scholar
• Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235–48.
   PubMedGoogle Scholar
• Lepore L, Paloni G, Caorsi R, Alessio M, Rigante D, Ruperto N, . Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with anakinra. J Pediatr. 2010;157:310–5.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, . Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105:1614–9.
   PubMed Web of Science ®Google Scholar
• Tallon B, Corkill M. Peculiarities of PAPA syndrome. Rheumatology. 2006;45:1140–3.
   PubMed Web of Science ®Google Scholar
• Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, . 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.
   PubMed Web of Science ®Google Scholar
• Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, . An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360:2426–37.
   PubMed Web of Science ®Google Scholar
• Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, . Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009;60:242–50.
   PubMed Web of Science ®Google Scholar
• Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–83.
   PubMed Web of Science ®Google Scholar
• Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet. 2002;10:145–9.
   PubMedGoogle Scholar
• Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, . The Infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29:803–8.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, . 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.
   PubMed Web of Science ®Google Scholar
• Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, . The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273–85.
   PubMed Web of Science ®Google Scholar
• Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, . Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011;63:830–9.
   PubMedGoogle Scholar
• Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Rheumatol. 2007;19:492–8.
   PubMed Web of Science ®Google Scholar
• Villanueva-Mendoza C, Arellanes-García L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Suárez LF, Zenteno JC. Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. Ophthalmic Genet. 2010;31:155–8.
   PubMed Web of Science ®Google Scholar
• Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, . Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24:194–8.
   PubMed Web of Science ®Google Scholar
• Manukyan G, Ghazaryan K, Ktsoyan Z, Khachatryan Z, Kelly D, Tatyan M, . Comparative analysis of cytokine profiles in autoinflammatory and autoimmune conditions. Cytokine. 2010;50:146–51.
   Google Scholar
• Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol. 2009;36:1677–81.
   Google Scholar
• Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.
   PubMed Web of Science ®Google Scholar
• Simon A, Cuisset L, Vincent MF, van der Velde-Visser SD, Delpech M, van der Meer JW, . 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.
   PubMedGoogle Scholar
• Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, . Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003;48:2632–44.
   PubMed Web of Science ®Google Scholar
• Lachmann HJ, Lowe P, Felix SD, Rordorf C, Leslie K, Madhoo S, . In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med. 2009;206:1029–36.
   PubMed Web of Science ®Google Scholar
• Rocken C, Shakespeare A. Pathology, diagnosis and pathogenesis of AA amyloidosis. Virchows Arch. 2002;440:111–22.
   PubMed Web of Science ®Google Scholar
• Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology. 2004;43:410–5.
   PubMed Web of Science ®Google Scholar
• Lachmann HJ, Gillmore JD. Renal amyloidosis. Br J Hosp Med (Lond). 2010;71:83–6.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Aganna E, Hawkins PN, Ozen S, Pettersson T, Bybee A, McKee SA, . Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun. 2004;5:289–93.
   PubMed Web of Science ®Google Scholar
• Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, . Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355:581–92.
   PubMed Web of Science ®Google Scholar
• Cantarini L, Rigante D, Lucherini OM, Cimaz R, Laghi Pasini F, Baldari CT, . 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.
   PubMed Web of Science ®Google Scholar
• Pietzsch J, Hoppmann S. Human S100A12: a novel key player in inflammation? Amino Acids. 2009;36:381–9.
   PubMed Web of Science ®Google Scholar
• Wittkowski H, Frosch M, Wulffraat N, Goldbach-Mansky R, Kallinich T, Kuemmerle-Deschner J, . 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.
   PubMed Web of Science ®Google Scholar
• Simon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007;292:R86–98.
   Web of Science ®Google Scholar
• Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, . 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Köklü S, Oztürk MA, Balci M, Yüksel O, Ertenli I, Kiraz S. Interferon-gamma levels in familial Mediterranean fever. Joint Bone Spine. 2005;72:38–40.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Nowlan ML, Drewe E, Bulsara H, Esposito N, Robins RA, Tighe PJ, . 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, . IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol. 2005;175:2630–4.
   PubMed Web of Science ®Google Scholar
• Rosengren S, Mueller JL, Anderson JP, Niehaus BL, Misaghi A, Anderson S, . Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol. 2007;119:991–6.
   PubMed Web of Science ®Google Scholar
• Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, . Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 2009;30:875–87.
   PubMed Web of Science ®Google Scholar
• Lachmann HJ, Koné-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, . Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360:2416–25.
   PubMed Web of Science ®Google Scholar
• Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, . Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516–20.
   PubMed Web of Science ®Google Scholar