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Volumn 32, Issue 5, 2012, Pages 922-932

Erratum to: Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study (J Clin Immunol, 10.1007/s10875-012-9688-x);Hereditary autoinflammatory syndromes: A Brazilian multicenter study

(20)  Jesus, Adriana A a   Fujihira, Erika a   Watase, Mariana a   Terreri, Maria T b   Hilario, Maria O b   Carneiro Sampaio, Magda a   Len, Claudio A b   Oliveira, Sheila K c   Rodrigues, Marta C c   Pereira, Rosa M a   Bica, Blanca c   Silva, Nilzio A d   Cavalcanti, Andre e   Marini, Roberto f   Sztajnbok, Flavio g   Quintero, Maria V h   Ferriani, Virginia P a   Moraes Vasconcelos, Dewton a   Silva, Clovis A a   Oliveira, Joao B i  


Author keywords

Autoinflammatory syndromes; Cryopyrin; Familial mediterranean fever; Genetics; MEFV; Mevalonate kinase deficiency TRAPS; MVK; NLRP3; TNFRSF1A

Indexed keywords

ADALIMUMAB; C REACTIVE PROTEIN; CANAKINUMAB; COLCHICINE; COMPLEMENTARY DNA; CORTICOSTEROID; CYCLOSPORIN; ETANERCEPT; INFLIXIMAB; METHOTREXATE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; THALIDOMIDE;

EID: 84866743305     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9715-y     Document Type: Erratum
Times cited : (31)

References (44)
  • 2
    • 79957456776 scopus 로고    scopus 로고
    • Current status of understanding the pathogenesis and management of patients with NOMID/CINCA
    • Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011; 13:123-31.
    • (2011) Curr Rheumatol Rep. , vol.13 , pp. 123-131
    • Goldbach-Mansky, R.1
  • 4
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial mediterranean fever. The international FMF consortium
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997; 90:797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 5
    • 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 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 syndromes. Cell. 1999; 97:133-44.
    • (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
  • 7
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • 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.
    • (2002) Am J Hum Genet. , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3    Berquin, P.4    Certain, S.5    Cortis, E.6
  • 8
    • 0036899758 scopus 로고    scopus 로고
    • De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
    • 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): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002; 46:3340-8.
    • (2002) Arthritis Rheum. , vol.46 , pp. 3340-3348
    • Aksentijevich, I.1    Nowak, M.2    Mallah, M.3    Chae, J.J.4    Watford, W.T.5    Hofmann, S.R.6
  • 9
    • 0035179970 scopus 로고    scopus 로고
    • Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and muckle-wells syndrome
    • 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.
    • (2001) Nat Genet. , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3    Wanderer, A.A.4    Kolodner, R.D.5
  • 10
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-igd and periodic fever syndrome. International hyper-igd study group
    • Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999; 22:178-81.
    • (1999) Nat Genet. , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3    Vasseur, C.4    Van De Velde-Visser, S.D.5    De Jong, J.G.6
  • 12
    • 45349095718 scopus 로고    scopus 로고
    • A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
    • Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008; 58:1823-32.
    • (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
  • 14
    • 40149105568 scopus 로고    scopus 로고
    • Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): Description of a rare non-exon 3 and a novel CIAS1 missense mutation
    • Jesus AA, Silva CA, Segundo GR, Aksentijevich I, Fujihira E, Watanabe M, et al. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol. 2008; 28:134-8.
    • (2008) J Clin Immunol. , vol.28 , pp. 134-138
    • Jesus, A.A.1    Silva, C.A.2    Segundo, G.R.3    Aksentijevich, I.4    Fujihira, E.5    Watanabe, M.6
  • 16
    • 79951517164 scopus 로고    scopus 로고
    • Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: Epidemiological study and lessons from eight years of genetic analysis in France
    • Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011; 70:495-9.
    • (2011) Ann Rheum Dis. , vol.70 , pp. 495-499
    • Cuisset, L.1    Jeru, I.2    Dumont, B.3    Fabre, A.4    Cochet, E.5    Le Bozec, J.6
  • 17
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in north American patients and a new cryopyrin model
    • 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.
    • (2007) Arthritis Rheum. , vol.56 , pp. 1273-1285
    • Aksentijevich, I.1    Putnam, D.C.2    Remmers, E.F.3    Mueller, J.L.4    Le, J.5    Kolodner, R.D.6
  • 20
    • 77955151784 scopus 로고    scopus 로고
    • Mutation taster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7:575-6.
    • (2010) Nat Methods. , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 21
    • 0036745064 scopus 로고    scopus 로고
    • Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
    • Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002; 46:2445-52.
    • (2002) Arthritis Rheum. , vol.46 , pp. 2445-2452
    • Aganna, E.1    Martinon, F.2    Hawkins, P.N.3    Ross, J.B.4    Swan, D.C.5    Booth, D.R.6
  • 23
    • 12144288979 scopus 로고    scopus 로고
    • Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
    • Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood. 2004; 103:2809-15.
    • (2004) Blood , vol.103 , pp. 2809-2815
    • Neven, B.1    Callebaut, I.2    Prieur, A.M.3    Feldmann, J.4    Bodemer, C.5    Lepore, L.6
  • 24
    • 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 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.
    • (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
  • 25
    • 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; 65:1158-62.
    • (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
  • 26
    • 0035046357 scopus 로고    scopus 로고
    • Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene. Rapid communication
    • Jadoul M, Dodé C, Cosyns JP, Abramowicz D, Georges B, Delpech M, et al. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene. Rapid communication. Kidney Int. 2001; 59:1677-82.
    • (2001) Kidney Int. , vol.59 , pp. 1677-1682
    • Jadoul, M.1    Dodé, C.2    Cosyns, J.P.3    Abramowicz, D.4    Georges, B.5    Delpech, M.6
  • 27
    • 0033399248 scopus 로고    scopus 로고
    • French society for human genetics. "Genetics in practice," commission. Core scientific data of use in genetic counseling. Familial mediterranean fever
    • Cazeneuve C, Dode C, Delpech M, Touitou I, Grateau G Amselem S [French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever]. Ann Genet. 1999; 42:241-5.
    • (1999) Ann Genet. , vol.42 , pp. 241-245
    • Cazeneuve, C.1    Dode, C.2    Delpech, M.3    Touitou, I.4    Grateau, G.5    Amselem, S.6
  • 28
    • 77954999821 scopus 로고    scopus 로고
    • Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial mediterranean fever protein
    • Ryan JG, Masters SL, Booty MG, Habal N, Alexander JD, Barham BK, et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann Rheum Dis. 2010; 69:1383-8.
    • (2010) Ann Rheum Dis. , vol.69 , pp. 1383-1388
    • Ryan, J.G.1    Masters, S.L.2    Booty, M.G.3    Habal, N.4    Alexander, J.D.5    Barham, B.K.6
  • 29
    • 79957627334 scopus 로고    scopus 로고
    • Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial mediterranean fever
    • Kilim Y, Magal N, Shohat M. Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever. Isr Med Assoc J. 2011; 13:206-8.
    • (2011) Isr Med Assoc J. , vol.13 , pp. 206-208
    • Kilim, Y.1    Magal, N.2    Shohat, M.3
  • 30
    • 78650516325 scopus 로고    scopus 로고
    • Common MEFV mutation analysis in 36 Iranian patients with familial mediterranean fever: Clinical and demographic significance
    • Bidari A, Ghavidel-Parsa B, Najmabadi H, Talachian E, Haghighat-Shoar M, Broumand B, et al. Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance. Mod Rheumatol. 2010; 20:566-72.
    • (2010) Mod Rheumatol. , vol.20 , pp. 566-572
    • Bidari, A.1    Ghavidel-Parsa, B.2    Najmabadi, H.3    Talachian, E.4    Haghighat-Shoar, M.5    Broumand, B.6
  • 31
    • 77954928424 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in patients with familial mediterranean fever in east anatolia (Turkey)
    • Albayrak F, Selcuk NY, Odabas AR, Cetinkaya R, Pirim I. Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey). Genet Test Mol Biomarkers. 2010; 14:325-8.
    • (2010) Genet Test Mol Biomarkers. , vol.14 , pp. 325-328
    • Albayrak, F.1    Selcuk, N.Y.2    Odabas, A.R.3    Cetinkaya, R.4    Pirim, I.5
  • 32
    • 70350648407 scopus 로고    scopus 로고
    • Familial mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children
    • Yilmaz R, Ozer S, Ozyurt H, Erkorkmaz U, Sahin S. Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children. J Paediatr Child Health. 2009; 45:641-5.
    • (2009) J Paediatr Child Health , vol.45 , pp. 641-645
    • Yilmaz, R.1    Ozer, S.2    Ozyurt, H.3    Erkorkmaz, U.4    Sahin, S.5
  • 34
    • 0036325978 scopus 로고    scopus 로고
    • I591T MEFV mutation in a spanish kindred: Is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
    • Aldea A, Casademont J, Aróstegui JI, Rius J, Masó M, Vives J, et al. I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier? Hum Mutat. 2002; 20:148-50.
    • (2002) Hum Mutat. , vol.20 , pp. 148-150
    • Aldea, A.1    Casademont, J.2    Aróstegui, J.I.3    Rius, J.4    Masó, M.5    Vives, J.6
  • 35
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of familial mediterranean fever (FMF) mutations
    • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001; 9:473-83.
    • (2001) Eur J Hum Genet. , vol.9 , pp. 473-483
    • Touitou, I.1
  • 36
    • 58149195381 scopus 로고    scopus 로고
    • Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    • van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008; 87:301-10.
    • (2008) Medicine (Baltimore) , vol.87 , pp. 301-310
    • Van Der Hilst, J.C.1    Bodar, E.J.2    Barron, K.S.3    Frenkel, J.4    Drenth, J.P.5    Van Der Meer, J.W.6
  • 37
    • 0033358597 scopus 로고    scopus 로고
    • Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of mennonite ancestry
    • Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, et al. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet. 1999; 65:327-35.
    • (1999) Am J Hum Genet. , vol.65 , pp. 327-335
    • Hinson, D.D.1    Ross, R.M.2    Krisans, S.3    Shaw, J.L.4    Kozich, V.5    Rolland, M.O.6
  • 38
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • 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.
    • (1999) Nat Genet. , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3    De Koning, T.J.4    Van Royen-Kerkhof, A.5    Romeijn, G.J.6
  • 39
    • 33746998472 scopus 로고    scopus 로고
    • Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
    • Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006; 27:796-802.
    • (2006) Hum Mutat. , vol.27 , pp. 796-802
    • Mandey, S.H.1    Schneiders, M.S.2    Koster, J.3    Waterham, H.R.4
  • 40
    • 66449110515 scopus 로고    scopus 로고
    • NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in Spain
    • Rosé CD, Aróstegui JI, Martin TM, Espada G, Scalzi L, Yagüe J, et al. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum. 2009; 60:1797-803.
    • (2009) Arthritis Rheum , vol.60 , pp. 1797-1803
    • Rosé, C.D.1    Aróstegui, J.I.2    Martin, T.M.3    Espada, G.4    Scalzi, L.5    Yagüe, J.6
  • 44
    • 27744593756 scopus 로고    scopus 로고
    • MEFVanalysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients
    • Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Caze-neuve C, Lacombe C, et al. MEFVanalysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis Rheum. 2005; 52:3603-5.
    • (2005) Arthritis Rheum. , vol.52 , pp. 3603-3605
    • Tchernitchko, D.1    Moutereau, S.2    Legendre, M.3    Delahaye, A.4    Caze-Neuve, C.5    Lacombe, C.6


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