메뉴 건너뛰기




Volumn 86, Issue 5, 2010, Pages 353-366

Pediatric hereditary autoinflammatory syndromes

Author keywords

[No Author keywords available]

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; C REACTIVE PROTEIN; CANAKINUMAB; COLCHICINE; CORTICOSTEROID; CRYOPYRIN; CYCLOSPORIN A; ETANERCEPT; GAMMA INTERFERON; IMMUNOGLOBULIN D; INFLAMMASOME; INFLIXIMAB; METHOTREXATE; MEVALONATE KINASE; NONSTEROID ANTIINFLAMMATORY AGENT; PROTEIN P55; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RILONACEPT; SERUM AMYLOID A; SIMVASTATIN; THALIDOMIDE;

EID: 78649646539     PISSN: 00217557     EISSN: None     Source Type: Journal    
DOI: 10.2223/JPED.2015     Document Type: Review
Times cited : (10)

References (129)
  • 1
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease (*)
    • Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621-68.
    • (2009) Annu Rev Immunol , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3    Kastner, D.L.4
  • 2
    • 76349123818 scopus 로고    scopus 로고
    • Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
    • Cantarini L, Lucherini OM, Cimaz R, Baldari CT, 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;22:1051-8.
    • (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
  • 3
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French FMF Consortium
    • French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 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
    • 71449120471 scopus 로고    scopus 로고
    • Primary immunodeficiencies: 2009 update
    • International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies
    • International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies; Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124:1161-78.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1161-1178
    • Notarangelo, L.D.1    Fischer, A.2    Geha, R.S.3    Casanova, J.L.4    Chapel, H.5
  • 7
    • 50349102477 scopus 로고    scopus 로고
    • The spectrum of monogenic autoinflammatory syndromes: Understanding disease mechanisms and use of targeted therapies
    • Glaser RL, Goldbach-Mansky R. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep. 2008;8:288-98.
    • (2008) Curr Allergy Asthma Rep , vol.8 , pp. 288-298
    • Glaser, R.L.1    Goldbach-Mansky, R.2
  • 8
    • 16244403344 scopus 로고    scopus 로고
    • Periodic fever syndromes
    • Padeh S. Periodic fever syndromes. Pediatr Clin North Am. 2005;52:577-609.
    • (2005) Pediatr Clin North Am , vol.52 , pp. 577-609
    • Padeh, S.1
  • 9
    • 25144512907 scopus 로고    scopus 로고
    • Periodic fever
    • Long SS. Periodic fever. Adv Exp Med Biol. 2005;568:101-15.
    • (2005) Adv Exp Med Biol , vol.568 , pp. 101-115
    • Long, S.S.1
  • 10
    • 19544381194 scopus 로고    scopus 로고
    • Distinguishing among prolonged, recurrent, and periodic fever syndromes: Approach of a pediatric infectious diseases subspecialist
    • Long SS. Distinguishing among prolonged, recurrent, and periodic fever syndromes: approach of a pediatric infectious diseases subspecialist. Pediatr Clin North Am. 2005;52:811-35.
    • (2005) Pediatr Clin North Am , vol.52 , pp. 811-835
    • Long, S.S.1
  • 11
    • 33745686186 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) and beyond: A new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005
    • Ozen S, Hoffman HM, Frenkel J, Kastner D. Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005. Ann Rheum Dis. 2006;65:961-4.
    • (2006) Ann Rheum Dis , vol.65 , pp. 961-964
    • Ozen, S.1    Hoffman, H.M.2    Frenkel, J.3    Kastner, D.4
  • 13
    • 0003474805 scopus 로고
    • An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism
    • Janeway TC, Monsenthal Ho. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans Ass Am Phys. 1908;23:504-18.
    • (1908) Trans Ass Am Phys , vol.23 , pp. 504-518
    • Janeway, T.C.1    Monsenthal, H.2
  • 14
    • 0002116633 scopus 로고
    • Benign paroxysmal peritonitis
    • Siegal S. Benign paroxysmal peritonitis. Ann Intern Med. 1945;23:1-21.
    • (1945) Ann Intern Med , vol.23 , pp. 1-21
    • Siegal, S.1
  • 15
    • 69049085064 scopus 로고    scopus 로고
    • Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy
    • Chae JJ, Aksentijevich I, Kastner DL. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol. 2009;146:467-78.
    • (2009) Br J Haematol , vol.146 , pp. 467-478
    • Chae, J.J.1    Aksentijevich, I.2    Kastner, D.L.3
  • 17
    • 33645359493 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Onen F. Familial Mediterranean fever. Rheumatol Int. 2006;26:489-96.
    • (2006) Rheumatol Int , vol.26 , pp. 489-496
    • Onen, F.1
  • 19
    • 0141523268 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol. 2003;18:853-9.
    • (2003) Pediatr Nephrol , vol.18 , pp. 853-859
    • Bakkaloglu, A.1
  • 21
    • 27344448749 scopus 로고    scopus 로고
    • Familial autoinflammatory diseases: Genetics, pathogenesis and treatment
    • DOI 10.1097/bor.0000174210.78449.6b
    • Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17:586-99. (Pubitemid 41527820)
    • (2005) Current Opinion in Rheumatology , vol.17 , Issue.5 , pp. 586-599
    • Stojanov, S.1    Kastner, D.L.2
  • 22
    • 0036671894 scopus 로고    scopus 로고
    • The inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
    • Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell. 2002;10:417-26.
    • (2002) Mol Cell , vol.10 , pp. 417-426
    • Martinon, F.1    Burns, K.2    Tschopp, J.3
  • 23
    • 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, Richard K, Park G, Smith BJ, 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 U S A. 2006;103:9982-7.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3    Richard, K.4    Park, G.5    Smith, B.J.6
  • 24
    • 34547138176 scopus 로고    scopus 로고
    • The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing
    • Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ. 2007;14:1457-66.
    • (2007) Cell Death Differ , vol.14 , pp. 1457-1466
    • Papin, S.1    Cuenin, S.2    Agostini, L.3    Martinon, F.4    Werner, S.5    Beer, H.D.6
  • 26
    • 0036926853 scopus 로고    scopus 로고
    • Hip involvement in patients with familial Mediterranean fever. A review of ten cases
    • Younes M, Kahn MF, Meyer O. Hip involvement in patients with familial Mediterranean fever. A review of ten cases. Joint Bone Spine. 2002;69:560-5.
    • (2002) Joint Bone Spine , vol.69 , pp. 560-565
    • Younes, M.1    Kahn, M.F.2    Meyer, O.3
  • 27
    • 45749155618 scopus 로고    scopus 로고
    • Autoinflammatory diseases: An update of clinical and genetic aspects
    • DOI 10.1093/rheumatology/ken118
    • Yao Q, Furst DE. Autoinflammatory diseases: an update of clinical and genetic aspects. Rheumatology (Oxford). 2008;47:946-51. (Pubitemid 351865913)
    • (2008) Rheumatology , vol.47 , Issue.7 , pp. 946-951
    • Yao, Q.1    Furst, D.E.2
  • 28
    • 67650354198 scopus 로고    scopus 로고
    • Recurrent febrile syndromes: What a rheumatologist needs to know
    • Hoffman HM, Simon A. Recurrent febrile syndromes: what a rheumatologist needs to know. Nat Rev Rheumatol. 2009;5:249-56.
    • (2009) Nat Rev Rheumatol , vol.5 , pp. 249-256
    • Hoffman, H.M.1    Simon, A.2
  • 29
    • 0028101194 scopus 로고
    • Protracted febrile myalgia in patients with familial mediterranean fever
    • Langevitz P, Zemer D, Livneh A, Shemer J, Pras M. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol. 1994;21:1708-9. (Pubitemid 24285488)
    • (1994) Journal of Rheumatology , vol.21 , Issue.9 , pp. 1708-1709
    • Langevitz, P.1    Zemer, D.2    Livneh, A.3
  • 30
    • 0030692845 scopus 로고    scopus 로고
    • Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF)
    • Kees S, Langevitz P, Zemer D, Padeh S, Pras M, Livneh A. Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF). QJM. 1997;90:643-7.
    • (1997) QJM , vol.90 , pp. 643-647
    • Kees, S.1    Langevitz, P.2    Zemer, D.3    Padeh, S.4    Pras, M.5    Livneh, A.6
  • 32
    • 63249101990 scopus 로고    scopus 로고
    • A new set of criteria for the diagnosis of familial Mediterranean fever in childhood
    • Oxford
    • Yalcinkaya F, Ozen S, Ozcakar ZB, Aktay N, Cakar N, Duzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford). 2009;48:395-8.
    • (2009) Rheumatology , vol.48 , pp. 395-398
    • Yalcinkaya, F.1    Ozen, S.2    Ozcakar, Z.B.3    Aktay, N.4    Cakar, N.5    Duzova, A.6
  • 33
    • 0033823558 scopus 로고    scopus 로고
    • Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes
    • Drenth JP, Powell RJ. Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes. J Pediatr. 2000;137:438-9.
    • (2000) J Pediatr , vol.137 , pp. 438-439
    • Drenth, J.P.1    Powell, R.J.2
  • 34
    • 12344314454 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study
    • Baltimore
    • Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84:1-11.
    • (2005) Medicine , vol.84 , pp. 1-11
    • Tunca, M.1    Akar, S.2    Onen, F.3    Ozdogan, H.4    Kasapcopur, O.5    Yalcinkaya, F.6
  • 36
    • 34547600007 scopus 로고    scopus 로고
    • The expanded clinical spectrum of familial Mediterranean fever
    • DOI 10.1007/s10067-006-0447-3
    • Ozcakar ZB, Yalcinkaya F, Yuksel S, Ekim M. The expanded clinical spectrum of familial Mediterranean fever. Clin Rheumatol. 2007;26:1557-60. (Pubitemid 47193579)
    • (2007) Clinical Rheumatology , vol.26 , Issue.9 , pp. 1557-1560
    • Ozcakar, Z.B.1    Yalcinkaya, F.2    Yuksel, S.3    Ekim, M.4
  • 37
    • 1442274819 scopus 로고    scopus 로고
    • Colchicine nonresponsiveness in familial Mediterranean fever: Clinical, genetic, pharmacokinetic, and socioeconomic characterization
    • Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, et al. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum. 2004;33:273-82.
    • (2004) Semin Arthritis Rheum , vol.33 , pp. 273-282
    • Lidar, M.1    Scherrmann, J.M.2    Shinar, Y.3    Chetrit, A.4    Niel, E.5    Gershoni-Baruch, R.6
  • 38
    • 5444235782 scopus 로고    scopus 로고
    • The efficacy of continuous interferon alpha administration as an adjunctive agent to colchicine-resistant familial Mediterranean fever patients
    • Calguneri M, Apras S, Ozbalkan Z, Ozturk MA, Ertenli I, Kiraz S. The efficacy of continuous interferon alpha administration as an adjunctive agent to colchicine-resistant familial Mediterranean fever patients. Clin Exp Rheumatol. 2004;22:S41-4.
    • (2004) Clin Exp Rheumatol , vol.22
    • Calguneri, M.1    Apras, S.2    Ozbalkan, Z.3    Ozturk, M.A.4    Ertenli, I.5    Kiraz, S.6
  • 39
    • 0036656517 scopus 로고    scopus 로고
    • Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient
    • Seyahi E, Ozdogan H, Masatlioglu S, Yazici H. Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clin Exp Rheumatol. 2002;20:S43-4.
    • (2002) Clin Exp Rheumatol , vol.20
    • Seyahi, E.1    Ozdogan, H.2    Masatlioglu, S.3    Yazici, H.4
  • 40
    • 33750738072 scopus 로고    scopus 로고
    • Treatment options in colchicine resistant familial Mediterranean fever patients: Thalidomide and etanercept as adjunctive agents
    • Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006;24:S99-103.
    • (2006) Clin Exp Rheumatol , vol.24
    • Seyahi, E.1    Ozdogan, H.2    Celik, S.3    Ugurlu, S.4    Yazici, H.5
  • 41
    • 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
  • 42
    • 33846139340 scopus 로고    scopus 로고
    • Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes
    • Simon A, van der Meer JW. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007;292:R86-98.
    • (2007) Am J Physiol Regul Integr Comp Physiol , vol.292
    • Simon, A.1    Van Der Meer, J.W.2
  • 43
    • 54249097056 scopus 로고    scopus 로고
    • TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept
    • Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, et al. TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. Eur J Pediatr. 2008;167:1421-5.
    • (2008) Eur J Pediatr , vol.167 , pp. 1421-1425
    • Jesus, A.A.1    Oliveira, J.B.2    Aksentijevich, I.3    Fujihira, E.4    Carneiro-Sampaio, M.M.5    Duarte, A.J.6
  • 44
    • 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
  • 45
    • 40349112838 scopus 로고    scopus 로고
    • The spectrum of autoinflammatory diseases: Recent bench to bedside observations
    • Ryan JG, Goldbach-Mansky R. The spectrum of autoinflammatory diseases: recent bench to bedside observations. Curr Opin Rheumatol. 2008;20:66-75.
    • (2008) Curr Opin Rheumatol , vol.20 , pp. 66-75
    • Ryan, J.G.1    Goldbach-Mansky, R.2
  • 46
    • 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
  • 47
    • 30044436545 scopus 로고    scopus 로고
    • Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution
    • Haas SL, Lohse P, Schmitt WH, Hildenbrand R, Karaorman M, Singer MV, et al. Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. Gastroenterology. 2006;130:172-8.
    • (2006) Gastroenterology , vol.130 , pp. 172-178
    • Haas, S.L.1    Lohse, P.2    Schmitt, W.H.3    Hildenbrand, R.4    Karaorman, M.5    Singer, M.V.6
  • 48
    • 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
  • 49
    • 4644283020 scopus 로고    scopus 로고
    • Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement
    • 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;63:1356-7.
    • (2004) Ann Rheum Dis , vol.63 , pp. 1356-1357
    • Minden, K.1    Aganna, E.2    McDermott, M.F.3    Zink, A.4
  • 50
    • 33745686175 scopus 로고    scopus 로고
    • "Periodic fever" without fever: Two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis
    • Kallinich 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;65:958-60.
    • (2006) Ann Rheum Dis , vol.65 , pp. 958-960
    • Kallinich, T.1    Haffner, D.2    Rudolph, B.3    Schindler, R.4    Canaan-Kuhl, S.5    Keitzer, R.6
  • 51
    • 71349087702 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor 1-associated periodic syndrome without fever: Cytokine profile before and during etanercept treatment
    • 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;30:207-12.
    • (2009) Rheumatol Int , vol.30 , pp. 207-212
    • Morbach, H.1    Richl, P.2    Stojanov, S.3    Lohse, P.4    Girschick, H.J.5
  • 52
    • 77951022989 scopus 로고    scopus 로고
    • A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome
    • Trubenbach J, Wildhardt G, Niebel J, Hawle H, Steinberger D. A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. Rheumatol Int. 2010;30:805-9.
    • (2010) Rheumatol Int , vol.30 , pp. 805-809
    • Trubenbach, J.1    Wildhardt, G.2    Niebel, J.3    Hawle, H.4    Steinberger, D.5
  • 53
    • 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;46:2181-8.
    • (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
  • 54
    • 0037216780 scopus 로고    scopus 로고
    • The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    • Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol. 2003;15:61-9.
    • (2003) Curr Opin Rheumatol , vol.15 , pp. 61-69
    • Hull, K.M.1    Shoham, N.2    Chae, J.J.3    Aksentijevich, I.4    Kastner, D.L.5
  • 55
    • 34447308222 scopus 로고    scopus 로고
    • Failure of anti-TNF therapy in TNF receptor 1 - Associated Periodic Syndrome (TRAPS) [5]
    • DOI 10.1093/rheumatology/kel298
    • Jacobelli S, André M, Alexandra JF, Dodé C, Papo T. Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS). Rheumatology (Oxford). 2007;46:1211-2. (Pubitemid 47050633)
    • (2007) Rheumatology , vol.46 , Issue.7 , pp. 1211-1212
    • Jacobelli, S.1    Andre, M.2    Alexandra, J.-F.3    Dode, C.4    Papo, T.5
  • 57
    • 73849134001 scopus 로고    scopus 로고
    • Blocking interleukin-1 in rheumatic diseases
    • Goldbach-Mansky R. Blocking interleukin-1 in rheumatic diseases. Ann N Y Acad Sci. 2009;1182:111-23.
    • (2009) Ann N Y Acad Sci , vol.1182 , pp. 111-123
    • Goldbach-Mansky, R.1
  • 58
    • 39549122472 scopus 로고    scopus 로고
    • Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy
    • Sacré K, Brihaye B, Lidove O, Papo T, Pocidalo MA, Cuisset L, et al. Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol. 2008;35:357-8. (Pubitemid 351281163)
    • (2008) Journal of Rheumatology , vol.35 , Issue.2 , pp. 357-358
    • Sacre, K.1    Brihaye, B.2    Lidove, O.3    Papo, T.4    Pocidalo, M.-A.5    Cuisset, L.6    Dode, C.7
  • 59
    • 59649101629 scopus 로고    scopus 로고
    • Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome
    • Nedjai B, Hitman GA, Quillinan N, Coughlan RJ, Church L, McDermott MF, et al. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2009;60:619-25.
    • (2009) Arthritis Rheum , vol.60 , pp. 619-625
    • Nedjai, B.1    Hitman, G.A.2    Quillinan, N.3    Coughlan, R.J.4    Church, L.5    McDermott, M.F.6
  • 60
    • 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
  • 61
    • 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 C, D.2    Remmers, E.F.3    Mueller, J.L.4    Le, J.5    Kolodner, R.D.6
  • 62
    • 10444241090 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
    • Arostegui JI, Aldea A, Modesto C, Rua MJ, Arguelles F, Gonzalez-Ensenat MA, et al. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum. 2004;50:4045-50.
    • (2004) Arthritis Rheum , vol.50 , pp. 4045-4050
    • Arostegui, J.I.1    Aldea, A.2    Modesto, C.3    Rua, M.J.4    Arguelles, F.5    Gonzalez-Ensenat, M.A.6
  • 63
    • 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
  • 64
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20:319-25.
    • (2004) Immunity , vol.20 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3    McDermott, M.F.4    Hawkins, P.N.5    Tschopp, J.6
  • 65
    • 33845890803 scopus 로고    scopus 로고
    • Inflammasome adaptors and sensors: Intracellular regulators of infection and inflammation
    • Mariathasan S, Monack DM. Inflammasome adaptors and sensors: intracellular regulators of infection and inflammation. Nat Rev Immunol. 2007;7:31-40.
    • (2007) Nat Rev Immunol , vol.7 , pp. 31-40
    • Mariathasan, S.1    Monack, D.M.2
  • 67
    • 32944468985 scopus 로고    scopus 로고
    • Gout-associated uric acid crystals activate the NALP3 inflammasome
    • DOI 10.1038/nature04516, PII N04516
    • Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature. 2006;440:237-41. (Pubitemid 43372104)
    • (2006) Nature , vol.440 , Issue.7081 , pp. 237-241
    • Martinon, F.1    Petrilli, V.2    Mayor, A.3    Tardivel, A.4    Tschopp, J.5
  • 68
    • 34547743231 scopus 로고    scopus 로고
    • The inflammasome in pathogen recognition and inflammation
    • Sutterwala FS, Ogura Y, Flavell RA. The inflammasome in pathogen recognition and inflammation. J Leukoc Biol. 2007;82:259-64.
    • (2007) J Leukoc Biol , vol.82 , pp. 259-264
    • Sutterwala, F.S.1    Ogura, Y.2    Flavell, R.A.3
  • 70
    • 51149087862 scopus 로고    scopus 로고
    • Cryopyrinopathies: Update on pathogenesis and treatment
    • Quartier dit Maire P; Medscape
    • Neven B, Prieur AM, Quartier dit Maire P; Medscape. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008;4:481-9.
    • (2008) Nat Clin Pract Rheumatol , vol.4 , pp. 481-489
    • Neven, B.1    Prieur, A.M.2
  • 71
    • 40149105568 scopus 로고    scopus 로고
    • Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): Description of a rare nonexon 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 nonexon 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
  • 72
    • 0034774916 scopus 로고    scopus 로고
    • Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
    • Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615-20.
    • (2001) J Allergy Clin Immunol , vol.108 , pp. 615-620
    • Hoffman, H.M.1    Wanderer, A.A.2    Broide, D.H.3
  • 73
    • 46449105454 scopus 로고    scopus 로고
    • Familial cold auto-inflammatory syndrome (FCAS): Characterization of symptomatology and impact on patients' lives
    • DOI 10.1185/03007990802081543
    • Stych B, Dobrovolny D. Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives. Curr Med Res Opin. 2008;24:1577-82. (Pubitemid 351929056)
    • (2008) Current Medical Research and Opinion , vol.24 , Issue.6 , pp. 1577-1582
    • Stych, B.1    Dobrovolny, D.2
  • 74
    • 3242742145 scopus 로고    scopus 로고
    • Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 in three German patients - Expanding phenotype of CIAS1 related autoinflammatory syndrome
    • DOI 10.1111/j.1600-0609.2004.00270.x
    • Porksen G, Lohse P, Rosen-Wolff A, Heyden S, Forster T, Wendisch J, et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur J Haematol. 2004;73:123-7. (Pubitemid 38980112)
    • (2004) European Journal of Haematology , vol.73 , Issue.2 , pp. 123-127
    • Porksen, G.1    Lohse, P.2    Rosen-Wolff, A.3    Heyden, S.4    Forster, T.5    Wendisch, J.6    Heubner, G.7    Von Bernuth, H.8    Sallmann, S.9    Gahr, M.10    Roesler, J.11
  • 75
    • 68449096386 scopus 로고    scopus 로고
    • Autoinflammatory syndromes behind the scenes of recurrent fevers in children
    • Rigante D. Autoinflammatory syndromes behind the scenes of recurrent fevers in children. Med Sci Monit. 2009;15:RA179-87.
    • (2009) Med Sci Monit , vol.15
    • Rigante, D.1
  • 76
    • 49449094179 scopus 로고    scopus 로고
    • Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies
    • Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58:2443-52.
    • (2008) Arthritis Rheum , vol.58 , pp. 2443-2452
    • Hoffman, H.M.1    Throne, M.L.2    Amar, N.J.3    Sebai, M.4    Kivitz, A.J.5    Kavanaugh, A.6
  • 77
    • 71249097725 scopus 로고    scopus 로고
    • Familial atypical cold urticaria: Description of a new hereditary disease
    • Gandhi C, Healy C, Wanderer AA, Hoffman HM. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009;124:1245-50.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1245-1250
    • Gandhi, C.1    Healy, C.2    Wanderer, A.A.3    Hoffman, H.M.4
  • 78
    • 73649189052 scopus 로고
    • Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
    • Muckle TJ, Wells. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235-48.
    • (1962) Q J Med , vol.31 , pp. 235-248
    • Muckle, T.J.1    Wells2
  • 79
    • 18344385660 scopus 로고    scopus 로고
    • New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
    • Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70:1498-506.
    • (2002) Am J Hum Genet , vol.70 , pp. 1498-1506
    • Dode, C.1    Le Du, N.2    Cuisset, L.3    Letourneur, F.4    Berthelot, J.M.5    Vaudour, G.6
  • 80
    • 1042290321 scopus 로고    scopus 로고
    • Spectrum of Clinical Features in Muckle-Wells Syndrome and Response to Anakinra
    • DOI 10.1002/art.20033
    • Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50:607-12. (Pubitemid 38198844)
    • (2004) Arthritis and Rheumatism , vol.50 , Issue.2 , pp. 607-612
    • Hawkins, P.N.1    Lachmann, H.J.2    Aganna, E.3    McDermott, M.F.4
  • 82
    • 0019425358 scopus 로고
    • Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
    • Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981;99:79-83.
    • (1981) J Pediatr , vol.99 , pp. 79-83
    • Prieur, A.M.1    Griscelli, C.2
  • 83
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
    • International Hyper-IgD Study Group
    • Prieur A 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
    • Prieur, A.1
  • 86
    • 34249685010 scopus 로고    scopus 로고
    • Mevalonate pathway: A review of clinical and therapeutical implications
    • Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007;40:575-84.
    • (2007) Clin Biochem , vol.40 , pp. 575-584
    • Buhaescu, I.1    Izzedine, H.2
  • 87
    • 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
  • 88
    • 32044435884 scopus 로고    scopus 로고
    • Isoprenylated proteins
    • McTaggart SJ. Isoprenylated proteins. Cell Mol Life Sci. 2006;63:255-67.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 255-267
    • McTaggart, S.J.1
  • 89
    • 0035098521 scopus 로고    scopus 로고
    • A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy
    • Prieur AM. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol. 2001;19:103-6.
    • (2001) Clin Exp Rheumatol , vol.19 , pp. 103-106
    • Prieur, A.M.1
  • 90
    • 51449105062 scopus 로고    scopus 로고
    • Síndrome CINCA: Um diagnóstico diferencial da artrite idiopática juvenil
    • Naka em, Leme LM, Quilião ME. Síndrome CINCA: um diagnóstico diferencial da artrite idiopática juvenil. Rev Bras Reumatol. 2007;47:309-14.
    • (2007) Rev Bras Reumatol , vol.47 , pp. 309-314
    • Naka, E.1    Leme, L.M.2    Quilião, M.E.3
  • 91
    • 60549102686 scopus 로고    scopus 로고
    • Developments in the scientific and clinical understanding of autoinflammatory disorders
    • Lachmann HJ, Hawkins PN. Developments in the scientific and clinical understanding of autoinflammatory disorders. Arthritis Res Ther. 2009;11:212.
    • (2009) Arthritis Res Ther , vol.11 , pp. 212
    • Lachmann, H.J.1    Hawkins, P.N.2
  • 92
    • 22144447157 scopus 로고    scopus 로고
    • The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide
    • Kallinich T, Hoffman HM, Roth J, Keitzer R. The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide. Scand J Rheumatol. 2005;34:246-9.
    • (2005) Scand J Rheumatol , vol.34 , pp. 246-249
    • Kallinich, T.1    Hoffman, H.M.2    Roth, J.3    Keitzer, R.4
  • 94
    • 70849083191 scopus 로고    scopus 로고
    • Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: A putative link between mevalonate kinase deficiency and inflammation
    • Normand S, Massonnet B, Delwail A, Favot L, Cuisset L, Grateau G, et al. Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation. Eur Cytokine Netw. 2009;20:101-7.
    • (2009) Eur Cytokine Netw , vol.20 , pp. 101-107
    • Normand, S.1    Massonnet, B.2    Delwail, A.3    Favot, L.4    Cuisset, L.5    Grateau, G.6
  • 95
    • 34848837371 scopus 로고    scopus 로고
    • Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
    • DOI 10.1093/rheumatology/kem200
    • 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. (Pubitemid 47500578)
    • (2007) Rheumatology , vol.46 , Issue.10 , pp. 1597-1600
    • Ammouri, W.1    Cuisset, L.2    Rouaghe, S.3    Rolland, M.-O.4    Delpech, M.5    Grateau, G.6    Ravet, N.7
  • 96
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients
    • International Hyper-IgD Study Group. Baltimore
    • Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 1994;73:133-44.
    • (1994) Medicine , vol.73 , pp. 133-144
    • Drenth, J.P.1    Haagsma, C.J.2    Van Der Meer, J.W.3
  • 97
    • 34248325296 scopus 로고    scopus 로고
    • Mevalonate kinase deficiencies: From mevalonic aciduria to hyperimmunoglobulinemia D syndrome
    • Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 13
    • Haas, D.1    Hoffmann, G.F.2
  • 98
    • 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
  • 99
    • 0028044763 scopus 로고
    • Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome
    • International Hyper IgD Study Group
    • Drenth JP, Boom BW, Toonstra J, Van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch Dermatol. 1994;130:59-65.
    • (1994) Arch Dermatol , vol.130 , pp. 59-65
    • Drenth, J.P.1    Boom, B.W.2    Toonstra, J.3    Van Der Meer, J.W.4
  • 101
    • 4444231190 scopus 로고    scopus 로고
    • First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome
    • Obici L, Manno C, Muda AO, Picco P, D'Osualdo A, Palladini G, et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2004;50:2966-9.
    • (2004) Arthritis Rheum , vol.50 , pp. 2966-2969
    • Obici, L.1    Manno, C.2    Muda, A.O.3    Picco, P.4    D'Osualdo, A.5    Palladini, G.6
  • 103
    • 33847068680 scopus 로고    scopus 로고
    • First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome
    • Rigante D, Capoluongo E, Bertoni B, Ansuini V, Chiaretti A, Piastra M, et al. First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2007;56:658-61.
    • (2007) Arthritis Rheum , vol.56 , pp. 658-661
    • Rigante, D.1    Capoluongo, E.2    Bertoni, B.3    Ansuini, V.4    Chiaretti, A.5    Piastra, M.6
  • 104
    • 0042243530 scopus 로고    scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration
    • Saulsbury FT. Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. J Pediatr. 2003;143:127-9.
    • (2003) J Pediatr , vol.143 , pp. 127-129
    • Saulsbury, F.T.1
  • 105
    • 68849116499 scopus 로고    scopus 로고
    • A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
    • Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol. 2009;36:1677-81.
    • (2009) J Rheumatol , vol.36 , pp. 1677-1681
    • Steichen, O.1    Van Der Hilst, J.2    Simon, A.3    Cuisset, L.4    Grateau, G.5
  • 106
  • 107
    • 23844552119 scopus 로고    scopus 로고
    • Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
    • Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63:260-4.
    • (2005) Neth J Med , vol.63 , pp. 260-264
    • Bodar, E.J.1    Van Der Hilst, J.C.2    Drenth, J.P.3    Van Der Meer, J.W.4    Simon, A.5
  • 108
    • 33845807104 scopus 로고    scopus 로고
    • Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis
    • Cailliez M, Garaix F, Rousset-Rouviere C, Bruno D, Kone-Paut I, Sarles J, et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis. 2006;29:763.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 763
    • Cailliez, M.1    Garaix, F.2    Rousset-Rouviere, C.3    Bruno, D.4    Kone-Paut, I.5    Sarles, J.6
  • 112
    • 0141453408 scopus 로고    scopus 로고
    • Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    • Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003;48:2645-51.
    • (2003) Arthritis Rheum , vol.48 , pp. 2645-2651
    • Takada, K.1    Aksentijevich, I.2    Mahadevan, V.3    Dean, J.A.4    Kelley, R.I.5    Kastner, D.L.6
  • 113
    • 51549087763 scopus 로고    scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome: Treatment with etanercept and follow-up
    • Topaloglu R, Ayaz NA, Waterham HR, Yuce A, Gumruk F, Sanal O. Hyperimmunoglobulinemia D and periodic fever syndrome: treatment with etanercept and follow-up. Clin Rheumatol. 2008;27:1317-20.
    • (2008) Clin Rheumatol , vol.27 , pp. 1317-1320
    • Topaloglu, R.1    Ayaz, N.A.2    Waterham, H.R.3    Yuce, A.4    Gumruk, F.5    Sanal, O.6
  • 114
    • 66449110515 scopus 로고    scopus 로고
    • NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in Spain
    • Rose CD, Arostegui JI, Martin TM, Espada G, Scalzi L, Yague 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
    • Rose, C.D.1    Arostegui, J.I.2    Martin, T.M.3    Espada, G.4    Scalzi, L.5    Yague, J.6
  • 117
    • 36048981805 scopus 로고    scopus 로고
    • NOD2 gene-associated pediatric granulomatous arthritis: Clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort
    • Arostegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P, et al. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum. 2007;56:3805-13.
    • (2007) Arthritis Rheum , vol.56 , pp. 3805-3813
    • Arostegui, J.I.1    Arnal, C.2    Merino, R.3    Modesto, C.4    Antonia Carballo, M.5    Moreno, P.6
  • 118
    • 0022213722 scopus 로고
    • Familial granulomatous arthritis, iritis, and rash
    • Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr. 1985;107:689-93.
    • (1985) J Pediatr , vol.107 , pp. 689-693
    • Blau, E.B.1
  • 119
    • 33645850142 scopus 로고    scopus 로고
    • Blau syndrome and related genetic disorders causing childhood arthritis
    • Becker ML, Rose CD. Blau syndrome and related genetic disorders causing childhood arthritis. Curr Rheumatol Rep. 2005;7:427-33.
    • (2005) Curr Rheumatol Rep , vol.7 , pp. 427-433
    • Becker, M.L.1    Rose, C.D.2
  • 120
    • 0037091012 scopus 로고    scopus 로고
    • Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    • Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002;11:961-9.
    • (2002) Hum Mol Genet , vol.11 , pp. 961-969
    • Wise, C.A.1    Gillum, J.D.2    Seidman, C.E.3    Lindor, N.M.4    Veile, R.5    Bashiardes, S.6
  • 121
    • 0344823965 scopus 로고    scopus 로고
    • Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    • Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA. 2003;100:13501-6.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 13501-13506
    • Shoham, N.G.1    Centola, M.2    Mansfield, E.3    Hull, K.M.4    Wood, G.5    Wise, C.A.6
  • 123
    • 22244469461 scopus 로고    scopus 로고
    • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
    • Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42:551-7.
    • (2005) J Med Genet , vol.42 , pp. 551-557
    • Ferguson, P.J.1    Chen, S.2    Tayeh, M.K.3    Ochoa, L.4    Leal, S.M.5    Pelet, A.6
  • 124
    • 34548448934 scopus 로고    scopus 로고
    • Chronic recurrent multifocal osteomyelitis: A concise review and genetic update
    • Sep
    • El-Shanti HI, Ferguson PJ. Chronic recurrent multifocal osteomyelitis: a concise review and genetic update. Clin Orthop Relat Res. 2007 Sep;462:11-9.
    • (2007) Clin Orthop Relat Res , vol.462 , pp. 11-19
    • El-Shanti, H.I.1    Ferguson, P.J.2
  • 125
    • 0035213576 scopus 로고    scopus 로고
    • The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
    • Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr. 2001;160:705-10.
    • (2001) Eur J Pediatr , vol.160 , pp. 705-710
    • Majeed, H.A.1    Al-Tarawna, M.2    El-Shanti, H.3    Kamel, B.4    Al-Khalaileh, F.5
  • 127
    • 66649113371 scopus 로고    scopus 로고
    • An autoinflammatory disease due to homozygous deletion of the IL1RN locus
    • Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360:2438-44.
    • (2009) N Engl J Med , vol.360 , pp. 2438-2444
    • Reddy, S.1    Jia, S.2    Geoffrey, R.3    Lorier, R.4    Suchi, M.5    Broeckel, U.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.