메뉴 건너뛰기




Volumn 58, Issue 6, 2008, Pages 1823-1832

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

(23)  Gattorno, M a,b   Sormani, M P b   D'Osualdo, A a   Pelagatti, M A a,b   Caroli, F a   Federici, S a,b   Cecconi, M c   Solari, N a,b   Meini, A d,e   Zulian, F f   Obici, L g   Breda, L h   Martino, S i   Tommasini, A j,k   Bossi, G g   Govers, A l,m   Touitou, I n   Woo, P o   Frenkel, J l,m   Kone Paut I p   more..


Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL PAIN; ADOLESCENT; ADULT; ANAMNESIS; APHTHOUS STOMATITIS; ARTICLE; AUTOINFLAMMATORY DISEASE; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; DIARRHEA; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETICS; HUMAN; MAJOR CLINICAL STUDY; MEDICAL INFORMATION SYSTEM; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; PROBABILITY; RECURRENT FEVER; REGRESSION ANALYSIS; RISK ASSESSMENT; SCREENING; SENSITIVITY AND SPECIFICITY; THORAX PAIN; UNIVARIATE ANALYSIS; VALIDATION PROCESS;

EID: 45349095718     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.23474     Document Type: Article
Times cited : (157)

References (25)
  • 2
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium
    • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 3
    • 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
    • The 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.
    • (1997) Cell , vol.90 , pp. 797-807
  • 4
    • 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
  • 5
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome [letter]
    • and contributing members of the International Hyper-IgD Study Group
    • Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al, and contributing members of the International Hyper-IgD Study Group. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome [letter]. 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
  • 6
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome [letter]
    • 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 [letter]. Nature Genet 1999;22:175-7.
    • (1999) Nature 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
  • 9
    • 27744593756 scopus 로고    scopus 로고
    • MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients
    • Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, et al. MEFV analysis 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    Cazeneuve, C.5    Lacombe, C.6
  • 10
    • 0023230159 scopus 로고
    • Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
    • Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987;110:43-6.
    • (1987) J Pediatr , vol.110 , pp. 43-46
    • Marshall, G.S.1    Edwards, K.M.2    Butler, J.3    Lawton, A.R.4
  • 12
    • 0023894493 scopus 로고    scopus 로고
    • Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66:57-68.
    • Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66:57-68.
  • 13
    • 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
  • 14
    • 0034926933 scopus 로고    scopus 로고
    • 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 [published erratum appears in Am J Hum Genet 2001;69:1160]. Am J Hum Genet 2001;69:301-14.
    • 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 [published erratum appears in Am J Hum Genet 2001;69:1160]. Am J Hum Genet 2001;69:301-14.
  • 15
    • 0141564873 scopus 로고    scopus 로고
    • Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
    • Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003;48:2632-44.
    • (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
  • 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, Dode C, Bienvenu J, Stirnemann J, Levy 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    Dode, C.3    Bienvenu, J.4    Stirnemann, J.5    Levy, P.6
  • 18
    • 33747162175 scopus 로고    scopus 로고
    • Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)
    • Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 2006;108:1320-7.
    • (2006) Blood , vol.108 , pp. 1320-1327
    • Lobito, A.A.1    Kimberley, F.C.2    Muppidi, J.R.3    Komarow, H.4    Jackson, A.J.5    Hull, K.M.6
  • 19
    • 20144367084 scopus 로고    scopus 로고
    • MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever
    • D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet 2005;13:314-20.
    • (2005) Eur J Hum Genet , vol.13 , pp. 314-320
    • D'Osualdo, A.1    Picco, P.2    Caroli, F.3    Gattorno, M.4    Giacchino, R.5    Fortini, P.6
  • 25
    • 34848837371 scopus 로고    scopus 로고
    • Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
    • Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G, et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 2007;46:1597-600.
    • (2007) Rheumatology (Oxford) , vol.46 , pp. 1597-1600
    • Ammouri, W.1    Cuisset, L.2    Rouaghe, S.3    Rolland, M.O.4    Delpech, M.5    Grateau, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.