메뉴 건너뛰기




Volumn 32, Issue 3, 2007, Pages 154-161

Autoinflammatory (fever) syndromes - Symptoms, genetics, and therapy;Autoinflammatorische (fieber-)syndrome - Klinik, genetik und therapie

Author keywords

Autoinflammation; Diagnosis, mutation; Fever of unknown origin; Hereditary periodic fever; Recurrent fever

Indexed keywords

AMYLOID A PROTEIN; C REACTIVE PROTEIN;

EID: 34447633554     PISSN: 0341051X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-963268     Document Type: Article
Times cited : (3)

References (40)
  • 1
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • Agostini L, Martinon F, Burns K et al. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004; 20: 319-325
    • (2004) Immunity , vol.20 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3
  • 2
    • 33746946359 scopus 로고    scopus 로고
    • Aksentijevich I, Remmers EF, Goldbach-Mansky R et al. Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al. and Saito et al. Arthritis Rheum 2006; 54: 2703-2704
    • Aksentijevich I, Remmers EF, Goldbach-Mansky R et al. Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al. and Saito et al. Arthritis Rheum 2006; 54: 2703-2704
  • 3
    • 0141523268 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol 2003; 18: 853-859
    • (2003) Pediatr Nephrol , vol.18 , pp. 853-859
    • Bakkaloglu, A.1
  • 4
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351: 659-664
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 5
    • 85184964975 scopus 로고    scopus 로고
    • Booth DR, Gillmore JD, Lachmann HJ et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q. J Med 2000; 93: 217-221
    • Booth DR, Gillmore JD, Lachmann HJ et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q. J Med 2000; 93: 217-221
  • 6
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103: 9982-9987
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3
  • 7
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • Dodé C, Andre M, Bienvenu T 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    Andre, M.2    Bienvenu, T.3
  • 9
    • 33750283386 scopus 로고    scopus 로고
    • Recurrent febrile episodes - normal, periodic fever syndrome or immunodeficiency?
    • Duppenthaler A. Recurrent febrile episodes - normal, periodic fever syndrome or immunodeficiency? Ther Umsch 2006; 63: 667-671
    • (2006) Ther Umsch , vol.63 , pp. 667-671
    • Duppenthaler, A.1
  • 10
    • 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 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
  • 11
    • 4043060827 scopus 로고    scopus 로고
    • Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1
    • Frenkel J, van Kempen MJ, Kuis W et al. Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. Arthritis Rheum 2004; 50: 2719-2720
    • (2004) Arthritis Rheum , vol.50 , pp. 2719-2720
    • Frenkel, J.1    van Kempen, M.J.2    Kuis, W.3
  • 12
    • 33746876396 scopus 로고    scopus 로고
    • Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
    • Goldbach-Mansky R, Dailey NJ, Canna SW et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med 2006; 355: 581-592
    • (2006) N Engl J Med , vol.355 , pp. 581-592
    • Goldbach-Mansky, R.1    Dailey, N.J.2    Canna, S.W.3
  • 14
    • 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 et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-305
    • (2001) Nat Genet , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3
  • 15
    • 0034672705 scopus 로고    scopus 로고
    • Biochemical and genetic aspects of mevalonate kinase and its deficiency
    • Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000; 1529: 19-32
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 19-32
    • Houten, S.M.1    Wanders, R.J.2    Waterham, H.R.3
  • 16
    • 0037300287 scopus 로고    scopus 로고
    • Carrier frequency of the V3771 (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
    • Houten SM, van Woerden CS, Wijburg FA et al. Carrier frequency of the V3771 (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2002; 11: 196-200
    • (2002) Eur J Hum Genet , vol.11 , pp. 196-200
    • Houten, S.M.1    van Woerden, C.S.2    Wijburg, F.A.3
  • 17
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptor-associated periodic syndrome (TRAPS). Emerging concepts of an autoinflammatory disorder
    • Hull KM, Drewe E, Aksentijevich I et al. The TNF receptor-associated periodic syndrome (TRAPS). Emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81: 349-368
    • (2002) Medicine (Baltimore) , vol.81 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3
  • 18
    • 33947186204 scopus 로고    scopus 로고
    • Colchicine use in children and adolescents with familial Mediterranean fever: Literature review and consensus statement
    • Kallinich T, Haffner D, Niehues T et al. Colchicine use in children and adolescents with familial Mediterranean fever: Literature review and consensus statement. Pediatrics 2007; 119: 474-483
    • (2007) Pediatrics , vol.119 , pp. 474-483
    • Kallinich, T.1    Haffner, D.2    Niehues, T.3
  • 19
    • 33750729262 scopus 로고    scopus 로고
    • Are carriers for MEFV mutations "healthy"?
    • Kalyoncu M, Celiker Acar B, Cakar N et al. Are carriers for MEFV mutations "healthy"? Clin Exp Rheumatol 2006; 24 (Suppl 42): S120-S122
    • (2006) Clin Exp Rheumatol , vol.24 , Issue.SUPPL. 42
    • Kalyoncu, M.1    Celiker Acar, B.2    Cakar, N.3
  • 21
    • 33745052318 scopus 로고    scopus 로고
    • AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases
    • Lachmann HJ, Goodman HJB, Andrews PA et al. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum 2006; 54: 2010-2014
    • (2006) Arthritis Rheum , vol.54 , pp. 2010-2014
    • Lachmann, H.J.1    Goodman, H.J.B.2    Andrews, P.A.3
  • 22
    • 33744762729 scopus 로고    scopus 로고
    • Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
    • Lachmann HJ, Şengül B, Yavuzşen TU et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology 2006; 45: 746-750
    • (2006) Rheumatology , vol.45 , pp. 746-750
    • Lachmann, H.J.1    Şengül, B.2    Yavuzşen, T.U.3
  • 23
    • 4344639904 scopus 로고    scopus 로고
    • Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS)
    • Lamprecht P, Moosig F, Adam-Klages S et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis 2004; 63: 1518-1520
    • (2004) Ann Rheum Dis , vol.63 , pp. 1518-1520
    • Lamprecht, P.1    Moosig, F.2    Adam-Klages, S.3
  • 24
    • 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 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: 1320-1327
    • (2006) Blood , vol.108 , pp. 1320-1327
    • Lobito, A.A.1    Kimberley, F.C.2    Muppidi, J.R.3
  • 25
    • 33746998472 scopus 로고    scopus 로고
    • Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
    • Mandey SHL, Schneiders MS, Koster J et al. 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.L.1    Schneiders, M.S.2    Koster, J.3
  • 26
    • 3843097190 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): Definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases
    • Masson C, Simon V, Hoppé E et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. Joint Bone Spine 2004; 71: 284-290
    • (2004) Joint Bone Spine , vol.71 , pp. 284-290
    • Masson, C.1    Simon, V.2    Hoppé, E.3
  • 27
    • 31944450555 scopus 로고    scopus 로고
    • Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
    • Matsubayashi T, Sugiura H, Arai T et al. Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006; 95: 246-249
    • (2006) Acta Paediatr , vol.95 , pp. 246-249
    • Matsubayashi, T.1    Sugiura, H.2    Arai, T.3
  • 28
    • 0033504364 scopus 로고    scopus 로고
    • Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome
    • Padeh S, Brezniak N, Zemer D et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome. J Pediatr 1999; 135: 98-101
    • (1999) J Pediatr , vol.135 , pp. 98-101
    • Padeh, S.1    Brezniak, N.2    Zemer, D.3
  • 29
    • 33747780470 scopus 로고    scopus 로고
    • Clinical significance of P46L and R92Q substitutions in the tumor necrosis factor superfamily 1A gene
    • Ravet N, Rouaghe S, Dode C et al. Clinical significance of P46L and R92Q substitutions in the tumor 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    Dode, C.3
  • 30
    • 33746971927 scopus 로고    scopus 로고
    • Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function
    • Rebelo SL, Bainbridge SE, Amel-Kashipaz MR et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum 2006; 54: 2674-2687
    • (2006) Arthritis Rheum , vol.54 , pp. 2674-2687
    • Rebelo, S.L.1    Bainbridge, S.E.2    Amel-Kashipaz, M.R.3
  • 31
    • 33645458522 scopus 로고    scopus 로고
    • Familial Mediterranean fever and the other autoinflammatory syndromes: Evaluation of the patient with recurrent fever
    • Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006; 18: 108-117
    • (2006) Curr Opin Rheumatol , vol.18 , pp. 108-117
    • Samuels, J.1    Ozen, S.2
  • 32
    • 33745880106 scopus 로고    scopus 로고
    • Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency
    • Schneiders MS, Houten SM, Turkenburg M et al. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum 2006; 54: 2306-2313
    • (2006) Arthritis Rheum , vol.54 , pp. 2306-2313
    • Schneiders, M.S.1    Houten, S.M.2    Turkenburg, M.3
  • 33
    • 0035806948 scopus 로고    scopus 로고
    • Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool
    • Simon A, Cuisset L, Vincent MF et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool. Ann Intern Med 2001; 135: 338-343
    • (2001) Ann Intern Med , vol.135 , pp. 338-343
    • Simon, A.1    Cuisset, L.2    Vincent, M.F.3
  • 34
    • 2042501706 scopus 로고    scopus 로고
    • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • Simon A, Drewe E, van der Meer JWM et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75: 476-483
    • (2004) Clin Pharmacol Ther , vol.75 , pp. 476-483
    • Simon, A.1    Drewe, E.2    van der Meer, J.W.M.3
  • 35
    • 33747617787 scopus 로고    scopus 로고
    • Hereditary periodic fever with systemic amyloidosis: Is hyper-IgD syndrome really a benign disease?
    • Siewert R, Ferber J, Horstmann RD et al. Hereditary periodic fever with systemic amyloidosis: Is hyper-IgD syndrome really a benign disease? Am J Kidney Dis 2006; 48: E41-E45
    • (2006) Am J Kidney Dis , vol.48
    • Siewert, R.1    Ferber, J.2    Horstmann, R.D.3
  • 36
    • 27344448749 scopus 로고    scopus 로고
    • Familial autoinflammatory diseases: Genetics, pathogenesis and treatment
    • Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586-599
    • (2005) Curr Opin Rheumatol , vol.17 , pp. 586-599
    • Stojanov, S.1    Kastner, D.L.2
  • 37
    • 32844473310 scopus 로고    scopus 로고
    • The tumour necrosis factor receptor-associated periodic syndrome: Current concepts
    • Stojanov S, McDermott MF. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med 2005; 7: 1-18
    • (2005) Expert Rev Mol Med , vol.7 , pp. 1-18
    • Stojanov, S.1    McDermott, M.F.2
  • 39
    • 33749564027 scopus 로고    scopus 로고
    • PFAPA syndrome - new clinical aspects disclosed
    • Tasher D, Somekh E, Dalal I. PFAPA syndrome - new clinical aspects disclosed. Arch Dis Child 2006; 91: 981-984
    • (2006) Arch Dis Child , vol.91 , pp. 981-984
    • Tasher, D.1    Somekh, E.2    Dalal, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.