메뉴 건너뛰기




Volumn 43, Issue 6, 2014, Pages 818-823

The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: Clinical manifestations and long-term follow-up

Author keywords

Autoinflammatory disorders; Differential diagnosis; Recurrent fever; TNFRSF1A gene; Tumor necrosis factor receptor associated periodic syndrome (TRAPS)

Indexed keywords

C REACTIVE PROTEIN; CANAKINUMAB; COLCHICINE; CORTICOSTEROID; ETANERCEPT; INFLIXIMAB; INTERLEUKIN 1 ANTIBODY; NONSTEROID ANTIINFLAMMATORY AGENT; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; STEROID; TUMOR NECROSIS FACTOR ANTIBODY; TNFRSF1A PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR 1;

EID: 84902544628     PISSN: 00490172     EISSN: 1532866X     Source Type: Journal    
DOI: 10.1016/j.semarthrit.2013.12.002     Document Type: Article
Times cited : (70)

References (32)
  • 1
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott M.F., Aksentijevich I., Galon J., McDermott E.M., Ogunkolade B.W., Centola M., 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, 97:133-144.
    • (1999) Cell , vol.97 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3    McDermott, E.M.4    Ogunkolade, B.W.5    Centola, M.6
  • 2
    • 0141564873 scopus 로고    scopus 로고
    • Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
    • Aganna E., Hammond L., Hawkins P.N., Aldea A., McKee S.A., van Amstel H.K., et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003, 48:2632-2644.
    • (2003) Arthritis Rheum , vol.48 , pp. 2632-2644
    • Aganna, E.1    Hammond, L.2    Hawkins, P.N.3    Aldea, A.4    McKee, S.A.5    van Amstel, H.K.6
  • 3
    • 0034926933 scopus 로고    scopus 로고
    • 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
    • Aksentijevich I., Galon J., Soares M., Mansfield E., Hull K., Oh H.H., 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, 69:301-314.
    • (2001) Am J Hum Genet , vol.69 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3    Mansfield, E.4    Hull, K.5    Oh, H.H.6
  • 4
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    • Hull K.M., Drewe E., Aksentijevich I., Singh H.K., Wong K., McDermott E.M., et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine 2002, 81:349-368.
    • (2002) Medicine , vol.81 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3    Singh, H.K.4    Wong, K.5    McDermott, E.M.6
  • 5
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • Dodé C., André M., Bienvenu T., Hausfater P., Pêcheux C., Bienvenu J., et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002, 46:2181-2188.
    • (2002) Arthritis Rheum , vol.46 , pp. 2181-2188
    • Dodé, C.1    André, M.2    Bienvenu, T.3    Hausfater, P.4    Pêcheux, C.5    Bienvenu, J.6
  • 6
    • 77956989287 scopus 로고    scopus 로고
    • Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome
    • Cantarini L., Lucherini O.M., Baldari C.T., Laghi Pasini F., Galeazzi M. Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome. Clin Exp Rheumatol 2010, 28:405-407.
    • (2010) Clin Exp Rheumatol , vol.28 , pp. 405-407
    • Cantarini, L.1    Lucherini, O.M.2    Baldari, C.T.3    Laghi Pasini, F.4    Galeazzi, M.5
  • 7
    • 77952754400 scopus 로고    scopus 로고
    • Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy
    • Cantarini L., Lucherini O.M., Cimaz R., Baldari C.T., Laghi Pasini F., Galeazzi M. Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy. Clin Exp Rheumatol 2010, 28:290-291.
    • (2010) Clin Exp Rheumatol , vol.28 , pp. 290-291
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3    Baldari, C.T.4    Laghi Pasini, F.5    Galeazzi, M.6
  • 8
    • 84863721668 scopus 로고    scopus 로고
    • Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study
    • Cantarini L., Lucherini O.M., Brucato A., Barone L., Cumetti D., Iacoponi F., et al. Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. Clin Res Cardiol 2012, 101:525-531.
    • (2012) Clin Res Cardiol , vol.101 , pp. 525-531
    • Cantarini, L.1    Lucherini, O.M.2    Brucato, A.3    Barone, L.4    Cumetti, D.5    Iacoponi, F.6
  • 9
    • 78650552920 scopus 로고    scopus 로고
    • Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment
    • Cantarini L., Lucherini O.M., Cimaz R., Galeazzi M. Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment. Clin Exp Rheumatol 2010, 28:802.
    • (2010) Clin Exp Rheumatol , vol.28 , pp. 802
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3    Galeazzi, M.4
  • 10
    • 84866872339 scopus 로고    scopus 로고
    • The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature
    • Muscari I., Iacoponi F., Cantarini L., Lucherini O.M., Simonini G., Brizi M.G., et al. The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. Autoimmun Rev 2012, 12:10-13.
    • (2012) Autoimmun Rev , vol.12 , pp. 10-13
    • Muscari, I.1    Iacoponi, F.2    Cantarini, L.3    Lucherini, O.M.4    Simonini, G.5    Brizi, M.G.6
  • 11
    • 84875963811 scopus 로고    scopus 로고
    • Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
    • Ter Haar N., Lachmann H., Ozen S., Woo P., Uziel Y., Modesto C., et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013, 72:678-685.
    • (2013) Ann Rheum Dis , vol.72 , pp. 678-685
    • Ter Haar, N.1    Lachmann, H.2    Ozen, S.3    Woo, P.4    Uziel, Y.5    Modesto, C.6
  • 13
    • 78149272003 scopus 로고    scopus 로고
    • Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature
    • Cantarini L., Rigante D., Lucherini O.M., Cimaz R., Laghi Pasini F., Baldari C.T., 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, 23:701-707.
    • (2010) Int J Immunopathol Pharmacol , vol.23 , pp. 701-707
    • Cantarini, L.1    Rigante, D.2    Lucherini, O.M.3    Cimaz, R.4    Laghi Pasini, F.5    Baldari, C.T.6
  • 16
    • 33644878847 scopus 로고    scopus 로고
    • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications
    • D'Osualdo A., Ferlito F., Prigione I., Obici L., Meini A., Zulian F., 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.
    • (2006) Arthritis Rheum , vol.54 , pp. 998-1008
    • D'Osualdo, A.1    Ferlito, F.2    Prigione, I.3    Obici, L.4    Meini, A.5    Zulian, F.6
  • 17
    • 33747780470 scopus 로고    scopus 로고
    • Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    • Ravet N., Rouaghe S., Dodé C., Bienvenu J., Stirnemann J., Lévy P., et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006, 65:1158-1162.
    • (2006) Ann Rheum Dis , vol.65 , pp. 1158-1162
    • Ravet, N.1    Rouaghe, S.2    Dodé, C.3    Bienvenu, J.4    Stirnemann, J.5    Lévy, P.6
  • 18
    • 76349123818 scopus 로고    scopus 로고
    • Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
    • Cantarini L., Lucherini O.M., Cimaz R., Baldari C.T., Bellisai F., Rossi Paccani S., et al. Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. Int J Immunopathol Pharmacol 2009, 22:1051-1058.
    • (2009) Int J Immunopathol Pharmacol , vol.22 , pp. 1051-1058
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3    Baldari, C.T.4    Bellisai, F.5    Rossi Paccani, S.6
  • 20
    • 72949102811 scopus 로고    scopus 로고
    • Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment
    • Cantarini L., Lucherini O.M., Galeazzi M., Fanti F., Simonini G., Baldari C.T., et al. Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment. Clin Exp Rheumatol 2009, 27:890-891.
    • (2009) Clin Exp Rheumatol , vol.27 , pp. 890-891
    • Cantarini, L.1    Lucherini, O.M.2    Galeazzi, M.3    Fanti, F.4    Simonini, G.5    Baldari, C.T.6
  • 21
    • 84879030292 scopus 로고    scopus 로고
    • Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis: report of two cases and review of the literature
    • Cantarini L., Lucherini O.M., Vitale A., Sabadini L., Brizi M.G., Frediani B., et al. Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis: report of two cases and review of the literature. Intern Med J 2013, 43:725-727.
    • (2013) Intern Med J , vol.43 , pp. 725-727
    • Cantarini, L.1    Lucherini, O.M.2    Vitale, A.3    Sabadini, L.4    Brizi, M.G.5    Frediani, B.6
  • 23
    • 84862731000 scopus 로고    scopus 로고
    • Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab
    • Brizi M.G., Galeazzi M., Lucherini O.M., Cantarini L., Cimaz R. Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab. Ann Intern Med 2012, 156:907-908.
    • (2012) Ann Intern Med , vol.156 , pp. 907-908
    • Brizi, M.G.1    Galeazzi, M.2    Lucherini, O.M.3    Cantarini, L.4    Cimaz, R.5
  • 24
    • 84924275962 scopus 로고    scopus 로고
    • The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EuroTRAPS international registry
    • Lachmann H.J., Papa R., Gerhold K., Obici L., Touitou I., Cantarini L., et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EuroTRAPS international registry. Ann Rheum Dis 2013, 10.1136/annrheumdis-2013-204184.
    • (2013) Ann Rheum Dis
    • Lachmann, H.J.1    Papa, R.2    Gerhold, K.3    Obici, L.4    Touitou, I.5    Cantarini, L.6
  • 25
    • 79953684286 scopus 로고    scopus 로고
    • Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene
    • Pelagatti M.A., Meini A., Caorsi R., Cattalini M., Federici S., Zulian F., et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum 2011, 63:1141-1150.
    • (2011) Arthritis Rheum , vol.63 , pp. 1141-1150
    • Pelagatti, M.A.1    Meini, A.2    Caorsi, R.3    Cattalini, M.4    Federici, S.5    Zulian, F.6
  • 27
    • 84883819650 scopus 로고    scopus 로고
    • Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
    • Touitou I. Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature. J Med Genet 2013, 50:349-359.
    • (2013) J Med Genet , vol.50 , pp. 349-359
    • Touitou, I.1
  • 28
    • 84880840381 scopus 로고    scopus 로고
    • Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders
    • Jéru I., Charmion S., Cochet E., Copin B., Duquesnoy P., Garcia M.T., et al. Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders. PLoS One 2013, 8:e69757.
    • (2013) PLoS One , vol.8
    • Jéru, I.1    Charmion, S.2    Cochet, E.3    Copin, B.4    Duquesnoy, P.5    Garcia, M.T.6
  • 29
    • 58149240956 scopus 로고    scopus 로고
    • Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases
    • Kümpfel T., Hoffmann L.A., Pellkofer H., Pöllmann W., Feneberg W., Hohlfeld R., et al. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases. Neurology 2008, 71:1812-1820.
    • (2008) Neurology , vol.71 , pp. 1812-1820
    • Kümpfel, T.1    Hoffmann, L.A.2    Pellkofer, H.3    Pöllmann, W.4    Feneberg, W.5    Hohlfeld, R.6
  • 30
    • 45349095718 scopus 로고    scopus 로고
    • A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
    • Gattorno M., Sormani M.P., D'Osualdo A., Pelagatti M.A., Caroli F., Federici S., et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008, 58:1823-1832.
    • (2008) Arthritis Rheum , vol.58 , pp. 1823-1832
    • Gattorno, M.1    Sormani, M.P.2    D'Osualdo, A.3    Pelagatti, M.A.4    Caroli, F.5    Federici, S.6
  • 31
    • 33645393917 scopus 로고    scopus 로고
    • A new low-penetrance TNFRSF1A mutation causing atypical periodic fever
    • Rack A., Stojanov S., Belohradsky B.H., Lohse P. A new low-penetrance TNFRSF1A mutation causing atypical periodic fever. Pediatr Int 2006, 48:169-171.
    • (2006) Pediatr Int , vol.48 , pp. 169-171
    • Rack, A.1    Stojanov, S.2    Belohradsky, B.H.3    Lohse, P.4
  • 32
    • 17744398570 scopus 로고    scopus 로고
    • Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese
    • Horiuchi T., Tsukamoto H., Mitoma H., Miyagawa H., Tamimoto Y., Yoshizawa S., et al. Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. Int J Mol Med 2004, 14:813-818.
    • (2004) Int J Mol Med , vol.14 , pp. 813-818
    • Horiuchi, T.1    Tsukamoto, H.2    Mitoma, H.3    Miyagawa, H.4    Tamimoto, Y.5    Yoshizawa, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.