40
Views
3
CrossRef citations to date
0
Altmetric
Review

The genetic background of tumour necrosis factor receptor‐associated periodic syndrome and other systemic autoinflammatory disorders

, , &
Pages 133-139 | Received 18 Jul 2003, Accepted 02 Dec 2003, Published online: 12 Jul 2009

References

  • Drenth JP, van der Meer JW. Periodic fever enters the era of molecular diagnosis. Br Med J 2000;320:1091–2.
  • Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003;15:61–9.
  • 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 autoinflamma-tory disorder. Medicine 2002;81:349–68.
  • International FMF 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.
  • French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25–31.
  • Drenth JPH, van der Meer JWM. Hereditary periodic fever. N Engl J Med 2001;345:1748–57.
  • Ben-Chetrit E, Levy M. Reproductive system in familial Mediterranean fever: an overview. Ann Rheum Dis 2003; 62:916–9.
  • 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.
  • Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JGN, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:178–81.
  • Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003;31:282–5.
  • Haraldsson A, Weemaes CM, De Boer AW, Bakkeren JA, Stoelinga GB. Immunological studies in the hyper-immunoglobulin D syndrome. J Clin Immunol 1992; 12:424–8.
  • Klasen IS, Goertz JH, van de Weil GA, Weemaes CM, van der Meer JW, Drenth JP. Hyper-immunoglobulin A in the hyperimmunglobulinemia D syndrome. Clin Diagn Lab Immunol 2001;8:58–61.
  • Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484–8.
  • Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003; 48:2645–51.
  • Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian fever. Q J Med 1982; 51:469–80.
  • McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997; 72:806–17.
  • McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, et al. Linkage of familial Hibernian fever to chromosome 12p13. Am J Hum Genet 1998;62: 1446–51.
  • McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extra-cellular domains of the 55 kD TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133–44.
  • Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, Ploos van Amstel HK, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003;48:2632–44.
  • Weyhreter H, Schwartz M, Kristensen TD, Valerius NH, Paerregaard A. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. J Pediatr 2003; 142:191–3.
  • Karenko L, Pettersson T, Roberts P. Autosomal dominant 'Mediterranean fever' in a Finnish family. J Intern Med 1992; 232:365–9.
  • Nevala H, Karenko L, Stjernberg S, Raatikainen M, Suomalainen H, Lagerstedt A, et al. A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum 2002;46:1061–6.
  • Bergman F, Warmenius S. Familial perireticular amyloidosis in a Swedish family. Am J Med 1968;45:601–6.
  • Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily lA fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology 2003;42: 235–9.
  • 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). Arthritis Rheum 2002;46:3340–8.
  • 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.
  • Feldman 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 chondro-cytes. Am J Hum Genet 2002;71:198–203.
  • Gumucio DL, Diaz A, Schaner P, Richards N, Babcock C, Schaller M, et al. Fire and ICE: The role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol 2002;20:45–53.
  • 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.
  • Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuro-pathy. Arthritis Rheum 2002;46:3041–5.
  • Wise C, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Molec Genet 2002;11: 961–9.
  • Martinon F, Burns K, Tschopp J. The Inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-13. Molec Cell 2002; 10:417–26.
  • Masumoto J, Dowds TA, Schaner P, Chen FF, Ogura Y, Li M, et al. ASC is an activating adaptor for NF-KB and caspase-8-dependent apoptosis. Biochem Biophys Res Com-mun 2003;303:69–73.
  • Stehlik C, Fiorentino L, Dorfleutner A, Bruey JM, Eugenia MA, Sagara J, et al. The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor KB activation pathways. J Exp Med 2002;196:1605–15.
  • Wang J, Al-Lamki RS, Zhang H, Kirkiles-Smith N, Gaeta ML, Thiru S, et al. Histamine antagonizes TNF signaling by stimulating TNF receptor shedding from cell surface and Golgi storage pool. J Biol Chem 2003;13;278:21751–60.
  • Mansfield E, Chae JJ, Komarow HD, Tillmann BM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and co-localizes with actin filaments. Blood 2001;98:851–9.
  • MacEwan DJ. TNF receptor subtype signalling: differences and cellular consequences. Cell Signal 2002;14:477–92.
  • Inohara N, Koseki T, Lin J, del Peso L, Lucas PC, Chen FF, et al. An induced proximity model for NF-KB activation in the Nodl/RICK and RIP signaling pathways. J Biol Chem 2000;275:27823–31.
  • Guesdon F, Knight CG, Rawlinson LM, Saklatvala J. Dual specificity of the interleukin 1- and tumor necrosis factor-activated beta casein kinase. J Biol Chem 1997;272:30017–24.
  • Weiss T, Grell M, Siemienski K, Miihlenbeck F, Diirkop H, Pfizenmaier K, et al. TNFR80-dependent enhancement of TNFR60-induced cell death is mediated by TNFR-associated factor 2 and is specific for TNFR60. J Immunol 1998; 161:3136–42.
  • Yoshida K, Kanaoka S, Kajimura M, Kataoka H, Takahira K, Osawa S, et al. A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV. Intern Med 2003;42:761–4.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.