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Case Report

Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

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Pages 311-315 | Received 17 Nov 2009, Accepted 15 Jan 2010, Published online: 02 Jan 2014

References

  • Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005; 17(5):586–99.
  • 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, define a family of dominantly inherited autoinflammatory syn-dromes. Cell. 1999;97(1):133–44.
  • 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 autoinflammatory disorder. Medicine (Baltimore). 2002;81(5):349–68.
  • Kriegel M, Hueffmeier U, Scherb E, Scheidig C, Geiler T, Kalden J, et al. Tumor necrosis factor receptor associated peri-odic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum. 2003;48(8):2386–8.
  • Trost S, Rose CD. Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. J Rheumatol. 2005;32(1):175–7.
  • Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K. Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) compli-cated by monocytic fasciitis. Rheumatology (Oxford). 2006; 45(9):1171–3.
  • Hull KM, Wong K, Wood GM, Chu WS, Kastner DL. Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction. Arthritis Rheum. 2002;46(8):2189–94.
  • Hurst M, Hull K, Nicholls D, Ameratunga R. Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis 1. J Cfin Rheumatol. 2005;11(6):329–30.
  • Kalfinich T, Haffner D, Rudolph B, Schindler R, Canaan-Kuhl S, Keitzer R, et al. "Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis. Ann Rheum Dis. 2006;65(7):958–60.
  • Cigni A, Ledda F, Satta AE. A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. J Nephrol. 2006;19(4): 543–9.
  • Marie I, Herve F, Dode C, Bernet J, Levesque H. Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome 1. Dig Dis Sci. 2006;51(6): 1061–2.
  • Minden K, Aganna E, McDermott MF, Zink A. Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement. Ann Rheum Dis. 2004; 63(10): 1356–7.
  • Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor super-family 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheuma-tology (Oxford). 2003;42(2):235–9.
  • Savage T, Loftus BG, Tormey V, McDermott MF, Moylett E. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. J Clin Rheumatol. 2008;14(6):342–5.
  • Drewe E, Huggins ML, Morgan AG, Cassidy MJ, Powell RJ. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheuma-tology (Oxford). 2004;43(11):1405–8.
  • 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(1):31–7.
  • Jacobelli S, Andre M, Alexandra JF, Dode C, Papo T. Failure of anti-TNF therapy in TNF receptor 1-associated periodic syn-drome (TRAPS). Rheumatology (Oxford). 2007;46(7):1211–2.
  • Drewe E, Powell RJ, McDermott EM. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syn-drome (TRAPS). Rheumatology. 2007;46(12):1865–6.
  • Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, et al. TNF receptor-associated peri-odic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. Eur J Pediatr. 2008; 167(12): 1421–5.
  • Lamprecht P, Moosig F, Adam-Klages S, Mrowietz U, Csernok E, Kirrstetter M, et al. Small vessel vasculitis and relapsing pannicufitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis. 2004;63(11):1518–20.
  • Arostegui JI, Solis P, Aldea A, Cantero T, Rius J, Bahillo P, et al. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005;164(1):13–6.
  • Drewe E, McDermott EM, Powell RJ. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med. 2000;343(14):1044–5.
  • Church LD, Churchman SM, Hawkins PN, McDermott MF. Hereditary autoinflammatory disorders and biologics. Semin Immunopathol. 2006;27:494–508.
  • Morbach H, Richl P, Stojanov S, Lohse P, Girschick HJ. Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment. Rheumatol Int 2009.
  • Hull KM, Kastner DL, Balow JE. Hereditary periodic fever. N Engl J Med. 2002;346(18):1415–6.
  • Siebert S, Amos N, Lawson TM. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford). 2008;47(2):228–9.
  • Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58(5):1516–20.

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