메뉴 건너뛰기




Volumn 2014, Issue , 2014, Pages

Untangling the web of systemic autoinflammatory diseases

Author keywords

[No Author keywords available]

Indexed keywords

AUTOINFLAMMATORY DISEASE; BLAU SYNDROME; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CINCA SYNDROME; DEFICIENCY OF THE IL 1 RECEPTOR ANTAGONIST; FAMILIAL MEDITERRANEAN FEVER; HEREDITARY PERIODIC FEVER; HYPERTRICHOSIS; INSULIN DEPENDENT DIABETES MELLITUS; MAJEED SYNDROME; METABOLIC DISORDER; MEVALONATE KINASE DEFICIENCY; NONAUTOIMMUNE INSULIN DEPENDENT DIABETES MELLITUS SYNDROME; PAPA SYNDROME; PIGMENT DISORDER; PIGMENTARY HYPERTRICHOSIS; PRIORITY JOURNAL; PROTEASOME ASSOCIATED DISORDER; PYOGENIC AUTOINFLAMMATORY DISEASE; REVIEW; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; ANIMAL; AUTOIMMUNE DISEASE; HUMAN; IMMUNOLOGY; INNATE IMMUNITY; METABOLISM;

EID: 84922078086     PISSN: 09629351     EISSN: 14661861     Source Type: Journal    
DOI: 10.1155/2014/948154     Document Type: Review
Times cited : (31)

References (139)
  • 1
    • 80052181853 scopus 로고    scopus 로고
    • Deregulated inflammasome signaling in disease
    • M. Lamkanfi, L. V. Walle, and T.-D. Kanneganti, "Deregulated inflammasome signaling in disease, " Immunological Reviews, vol. 243, no. 1, pp. 163-173, 2011.
    • (2011) Immunological Reviews , vol.243 , Issue.1 , pp. 163-173
    • Lamkanfi, M.1    Walle, L.V.2    Kanneganti, T.-D.3
  • 2
    • 33747340486 scopus 로고    scopus 로고
    • The inflammasome -A linebacker of innate defense
    • J. P. H. Drenth and J. W. M. Van Der Meer, "The inflammasome-a linebacker of innate defense, " New England Journal of Medicine, vol. 355, no. 7, pp. 730-732, 2006.
    • (2006) New England Journal of Medicine , vol.355 , Issue.7 , pp. 730-732
    • Drenth, J.P.H.1    Meer Der Van, M.J.W.2
  • 3
    • 84866840443 scopus 로고    scopus 로고
    • Amyloidosis in autoinflammatory syndromes
    • L. Obici and G. Merlini, "Amyloidosis in autoinflammatory syndromes, " Autoimmunity Reviews, vol. 12, no. 1, pp. 14-17, 2012.
    • (2012) Autoimmunity Reviews , vol.12 , Issue.1 , pp. 14-17
    • Obici, L.1    Merlini, G.2
  • 4
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
    • S. L. Masters, A. Simon, I. Aksentijevich, and D. L. Kastner, "Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease, " Annual Review of Immunology, vol. 27, pp. 621-668, 2009.
    • (2009) Annual Review of Immunology , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3    Kastner, D.L.4
  • 5
    • 35549004467 scopus 로고    scopus 로고
    • Familialmediterranean fever: Clinical, molecular and management advancements
    • M. Lidar and A. Livneh, "Familialmediterranean fever: clinical, molecular and management advancements, " Netherlands Journal of Medicine, vol. 65, no. 9, pp. 318-324, 2007.
    • (2007) Netherlands Journal of Medicine , vol.65 , Issue.9 , pp. 318-324
    • Lidar, M.1    Livneh, A.2
  • 6
    • 0343776129 scopus 로고    scopus 로고
    • The acute scrotum in Arab children with familial Mediterranean fever
    • H. A. Majeed, H. M. Shahin, and K. Ghandour, "The acute scrotum in Arab children with familial Mediterranean fever, " Pediatric Surgery International, vol. 16, no. 1-2, pp. 72-74, 2000.
    • (2000) Pediatric Surgery International , vol.16 , Issue.1-2 , pp. 72-74
    • Majeed, H.A.1    Shahin, H.M.2    Ghandour, K.3
  • 7
    • 84895440687 scopus 로고    scopus 로고
    • Results from a multicentre international registry of familial Mediterranean fever: Impact of environment on the expression of amonogenic disease in children
    • S. Ozen, E. Demirkaya, G. Amaryan et al. , "Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of amonogenic disease in children, " Annals of the Rheumatic Diseases, vol. 73, no. 4, pp. 662-667, 2014.
    • (2014) Annals of the Rheumatic Diseases , vol.73 , Issue.4 , pp. 662-667
    • Ozen, S.1    Demirkaya, E.2    Amaryan, G.3
  • 9
    • 0014118417 scopus 로고
    • Familial Mediterranean fever. A survey of 470 cases and review of the literature
    • E. Sohar, J. Gafni, M. Pras, and H. Heller, "Familial Mediterranean fever. A survey of 470 cases and review of the literature, " The American Journal of Medicine, vol. 43, no. 2, pp. 227-253, 1967.
    • (1967) The American Journal of Medicine , vol.43 , Issue.2 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3    Heller, H.4
  • 11
    • 14744296180 scopus 로고    scopus 로고
    • Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: Analysis of 401 cases
    • M. Sayarlioglu, A. Cefle, M. Inanc et al. , "Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases, " International Journal of Clinical Practice, vol. 59, no. 2, pp. 202-205, 2005.
    • (2005) International Journal of Clinical Practice , vol.59 , Issue.2 , pp. 202-205
    • Sayarlioglu, M.1    Cefle, A.2    Inanc, M.3
  • 12
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • A. Livneh, P. Langevitz, D. Zemer et al. , "Criteria for the diagnosis of familial Mediterranean fever, " Arthritis and Rheumatism, vol. 40, no. 10, pp. 1879-1885, 1997.
    • (1997) Arthritis and Rheumatism , vol.40 , Issue.10 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 13
    • 84895789616 scopus 로고    scopus 로고
    • The MEFV mutations and their clinical correlations in children with familialMediterranean fever in southeast Turkey
    • A. Ece, E. Cakmak, U. Uluca et al. , "The MEFV mutations and their clinical correlations in children with familialMediterranean fever in southeast Turkey, " Rheumatology International, vol. 32, no. 2, pp. 207-212, 2014.
    • (2014) Rheumatology International , vol.32 , Issue.2 , pp. 207-212
    • Ece, A.1    Cakmak, E.2    Uluca, U.3
  • 14
    • 0343963221 scopus 로고    scopus 로고
    • Clinical versus genetic diagnosis of familial Mediterranean fever
    • G. Grateau, C. Pecheux, C. Cazeneuve et al. , "Clinical versus genetic diagnosis of familial Mediterranean fever, " Oxford Journals Medicine, vol. 93, no. 4, pp. 223-229, 2000.
    • (2000) Oxford Journals Medicine , vol.93 , Issue.4 , pp. 223-229
    • Grateau, G.1    Pecheux, C.2    Cazeneuve, C.3
  • 15
    • 0042072901 scopus 로고    scopus 로고
    • Familial Mediterranean fever among patients from Karabakh and the diagnostic value ofMEFV gene analysis in all classically affected populations
    • C. Cazeneuve, Z. Hovannesyan, D. Genevieve et al. , "Familial Mediterranean fever among patients from Karabakh and the diagnostic value ofMEFV gene analysis in all classically affected populations, " Arthritis and Rheumatism, vol. 48, no. 8, pp. 2324-2331, 2003.
    • (2003) Arthritis and Rheumatism , vol.48 , Issue.8 , pp. 2324-2331
    • Cazeneuve, C.1    Hovannesyan, Z.2    Genevieve, D.3
  • 16
    • 66449096202 scopus 로고    scopus 로고
    • Familial Mediterranean fever with a single MEFVmutation: Where is the second hit?
    • M. G. Booty, J. C. Jae, S. L. Masters et al. , "Familial Mediterranean fever with a single MEFVmutation: where is the second hit?" Arthritis and Rheumatism, vol. 60, no. 6, pp. 1851-1861, 2009.
    • (2009) Arthritis and Rheumatism , vol.60 , Issue.6 , pp. 1851-1861
    • Booty, M.G.1    Jae, J.C.2    Masters, S.L.3
  • 17
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal dominant familial Mediterranean fever
    • D. R. Booth, J. D. Gillmore, H. J. Lachmann et al. , "The genetic basis of autosomal dominant familial Mediterranean fever, " Oxford Journals Medicine, vol. 93, no. 4, pp. 217-221, 2000.
    • (2000) Oxford Journals Medicine , vol.93 , Issue.4 , pp. 217-221
    • Booth, D.R.1    Gillmore, J.D.2    Lachmann, H.J.3
  • 19
    • 0032574208 scopus 로고    scopus 로고
    • FamilialMediterranean fever
    • E. Ben-Chetrit and M. Levy, "FamilialMediterranean fever, "The Lancet, vol. 351, no. 9103, pp. 659-664, 1998.
    • (1998) The Lancet , vol.351 , Issue.9103 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 20
    • 33644852021 scopus 로고    scopus 로고
    • Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: A possible new outlook through microarray analysis
    • E. Ben-Chetrit, S. Bergmann, and R. Sood, "Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: a possible new outlook through microarray analysis, " Rheumatology, vol. 45, no. 3, pp. 274-282, 2006.
    • (2006) Rheumatology , vol.45 , Issue.3 , pp. 274-282
    • Ben-Chetrit, E.1    Bergmann, S.2    Sood, R.3
  • 21
    • 84875963811 scopus 로고    scopus 로고
    • Treatment of autoinflammatory diseases: Results from the Eurofever Registry and a literature review
    • N. T. Haar, H. Lachmann, S. Ozen et al. , "Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review, " Annals of the Rheumatic Diseases, vol. 72, no. 5, pp. 678-685, 2013.
    • (2013) Annals of the Rheumatic Diseases , vol.72 , Issue.5 , pp. 678-685
    • Haar, N.T.1    Lachmann, H.2    Ozen, S.3
  • 22
    • 84881453312 scopus 로고    scopus 로고
    • Biological treatments: New weapons in the management of monogenic autoinflammatory disorders
    • Article ID 939847
    • A. Vitale, D. Rigante, O. M. Lucherini et al. , "Biological treatments: new weapons in the management of monogenic autoinflammatory disorders, " Mediators of Inflammation, vol. 2013, Article ID 939847, 16 pages, 2013.
    • (2013) Mediators of Inflammation , vol.2013 , pp. 16
    • Vitale, A.1    Rigante, D.2    Lucherini, O.M.3
  • 23
    • 68849116499 scopus 로고    scopus 로고
    • A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
    • O. Steichen, J. Van Der Hilst, A. Simon, L. Cuisset, and G. Grateau, "A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever, " Journal of Rheumatology, vol. 36, no. 8, pp. 1677-1681, 2009.
    • (2009) Journal of Rheumatology , vol.36 , Issue.8 , pp. 1677-1681
    • Steichen, O.1    Hilst Der J.Van2    Simon, A.3    Cuisset, L.4    Grateau, G.5
  • 24
    • 58149195381 scopus 로고    scopus 로고
    • Longterm follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    • J. C. H. Van Der Hilst, E. J. Bodar, K. S. Barron et al. , "Longterm follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome, " Medicine, vol. 87, no. 6, pp. 301-310, 2008.
    • (2008) Medicine , vol.87 , Issue.6 , pp. 301-310
    • Hilst Der Van, H.J.C.1    Bodar, E.J.2    Barron, K.S.3
  • 25
    • 33847068680 scopus 로고    scopus 로고
    • First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome
    • D. Rigante, E. Capoluongo, B. Bertoni et al. , "First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome, " Arthritis and Rheumatism, vol. 56, no. 2, pp. 658-661, 2007.
    • (2007) Arthritis and Rheumatism , vol.56 , Issue.2 , pp. 658-661
    • Rigante, D.1    Capoluongo, E.2    Bertoni, B.3
  • 26
    • 84888002927 scopus 로고    scopus 로고
    • Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa
    • A. M. Siemiatkowska, L. I. van den Born, P. M. van Hagen et al. , "Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa, " Ophthalmology, vol. 120, no. 12, pp. 2697-2705, 2013.
    • (2013) Ophthalmology , vol.120 , Issue.12 , pp. 2697-2705
    • Siemiatkowska, A.M.1    Born Den Van, L.I.2    Van Hagen, P.M.3
  • 27
    • 84866933028 scopus 로고    scopus 로고
    • Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
    • S.-Q. Zhang, T. Jiang, M. Li et al. , "Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis, " Nature Genetics, vol. 44, no. 10, pp. 1156-1160, 2012.
    • (2012) Nature Genetics , vol.44 , Issue.10 , pp. 1156-1160
    • Zhang, S.-Q.1    Jiang, T.2    Li, M.3
  • 28
    • 84868246282 scopus 로고    scopus 로고
    • Clinical and biochemical landmarks in systemic autoinflammatory diseases
    • L. Cantarini, D. Rigante, M. G. Brizi et al. , "Clinical and biochemical landmarks in systemic autoinflammatory diseases, " Annals of Medicine, vol. 44, no. 7, pp. 664-673, 2012.
    • (2012) Annals of Medicine , vol.44 , Issue.7 , pp. 664-673
    • Cantarini, L.1    Rigante, D.2    Brizi, M.G.3
  • 29
    • 84857500409 scopus 로고    scopus 로고
    • The fresco of autoinflammatory diseases from the pediatric perspective
    • D. Rigante, "The fresco of autoinflammatory diseases from the pediatric perspective, " Autoimmunity Reviews, vol. 11, no. 5, pp. 348-356, 2012.
    • (2012) Autoimmunity Reviews , vol.11 , Issue.5 , pp. 348-356
    • Rigante, D.1
  • 30
    • 79959933887 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency: A survey of 50 patients
    • B. Bader-Meunier, B. Florkin, J. Sibilia et al. , "Mevalonate kinase deficiency: a survey of 50 patients, " Pediatrics, vol. 128, no. 1, pp. e152-e159, 2011.
    • (2011) Pediatrics , vol.128 , Issue.1 , pp. e152-e159
    • Bader-Meunier, B.1    Florkin, B.2    Sibilia, J.3
  • 32
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • C. Dode, M. Andre, T. Bienvenu et al. , "The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome, " Arthritis and Rheumatism, vol. 46, no. 8, pp. 2181-2188, 2002.
    • (2002) Arthritis and Rheumatism , vol.46 , Issue.8 , pp. 2181-2188
    • Dode, C.1    Andre, M.2    Bienvenu, T.3
  • 33
    • 84881503457 scopus 로고    scopus 로고
    • Fromthe mediterranean to the sea of Japan: The transcontinental odyssey of autoinflammatory diseases
    • Article ID 485103
    • D. Rigante, B. Frediani, M. Galeazzi, and L. Cantarini, "Fromthe mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases, " BioMed Research International, vol. 2013, Article ID 485103, 8 pages, 2013.
    • (2013) BioMed Research International , vol.2013 , pp. 8
    • Rigante, D.1    Frediani, B.2    Galeazzi, M.3    Cantarini, L.4
  • 34
    • 11844294692 scopus 로고    scopus 로고
    • Myocarditis and sacroiliitis: 2 Previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome
    • S. Trost and C. D. Rose, "Myocarditis and sacroiliitis: 2 Previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome, " Journal of Rheumatology, vol. 32, no. 1, pp. 175-177, 2005.
    • (2005) Journal of Rheumatology , vol.32 , Issue.1 , pp. 175-177
    • Trost, S.1    Rose, C.D.2
  • 35
    • 77956310861 scopus 로고    scopus 로고
    • Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
    • R. Schmaltz, T. Vogt, and J. Reichrath, "Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS), "Dermato-Endocrinology, vol. 2, no. 1, pp. 26-29, 2010.
    • (2010) Dermato-Endocrinology , vol.2 , Issue.1 , pp. 26-29
    • Schmaltz, R.1    Vogt, T.2    Reichrath, J.3
  • 36
    • 17144368470 scopus 로고    scopus 로고
    • Unexpected high frequency of P46L TNFRSF1A allele in sub-SaharaWest African populations
    • D. Tchernitchko, M. Chiminqgi, F. Galacteros et al. , "Unexpected high frequency of P46L TNFRSF1A allele in sub-SaharaWest African populations, " European Journal of Human Genetics, vol. 13, no. 4, pp. 513-515, 2005.
    • (2005) European Journal of Human Genetics , vol.13 , Issue.4 , pp. 513-515
    • Tchernitchko, D.1    Chiminqgi, M.2    Galacteros, F.3
  • 37
    • 78650552920 scopus 로고    scopus 로고
    • Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment
    • L. Cantarini, O. M. Lucherini, R. Cimaz, and M. Galeazzi, "Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment, " Clinical and Experimental Rheumatology, vol. 28, no. 5, p. 802, 2010.
    • (2010) Clinical and Experimental Rheumatology , vol.28 , Issue.5 , pp. 802
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3    Galeazzi, M.4
  • 38
    • 84863721668 scopus 로고    scopus 로고
    • Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: Results of a multicentre study
    • L. Cantarini, O. M. Lucherini, A. Brucato et al. , "Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study, " Clinical Research in Cardiology, vol. 101, no. 7, pp. 525-531, 2012.
    • (2012) Clinical Research in Cardiology , vol.101 , Issue.7 , pp. 525-531
    • Cantarini, L.1    Lucherini, O.M.2    Brucato, A.3
  • 39
    • 77956989287 scopus 로고    scopus 로고
    • Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome
    • L. Cantarini, O. M. Lucherini, C. T. Baldari, F. Laghi Pasini, and M. Galeazzi, "Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome, " Clinical and Experimental Rheumatology, vol. 28, no. 3, pp. 405-407, 2010.
    • (2010) Clinical and Experimental Rheumatology , vol.28 , Issue.3 , pp. 405-407
    • Cantarini, L.1    Lucherini, O.M.2    Baldari, C.T.3    Laghi Pasini, F.4    Galeazzi, M.5
  • 40
    • 76349123818 scopus 로고    scopus 로고
    • Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
    • L. Cantarini, O. M. Lucherini, R. Cimaz et al. , "Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome, " International Journal of Immunopathology and Pharmacology, vol. 22, no. 4, pp. 1051-1058, 2009.
    • (2009) International Journal of Immunopathology and Pharmacology , vol.22 , Issue.4 , pp. 1051-1058
    • Cantarini, L.1    Lucherini, O.M.2    Cimaz, R.3
  • 41
    • 79953000253 scopus 로고    scopus 로고
    • Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders
    • L. Cantarini, O. M. Lucherini, F. Iacoponi et al. , "Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders, " International Journal of Immunopathology and Pharmacology, vol. 23, no. 4, pp. 1133-1141, 2010.
    • (2010) International Journal of Immunopathology and Pharmacology , vol.23 , Issue.4 , pp. 1133-1141
    • Cantarini, L.1    Lucherini, O.M.2    Iacoponi, F.3
  • 43
    • 84884993075 scopus 로고    scopus 로고
    • The most recent advances in pathophysiology and management of tumour necrosis factor receptor associated periodic syndrome (TRAPS): Personal experience and literature review
    • F. Magnotti, A. Vitale, D. Rigante et al. , "The most recent advances in pathophysiology and management of tumour necrosis factor receptor associated periodic syndrome (TRAPS): personal experience and literature review, " Clinical and Experimental Rheumatology, vol. 31, no. 3, supplement 77, pp. 141-149, 2013.
    • (2013) Clinical and Experimental Rheumatology , vol.31 , Issue.3 , pp. 141-149
    • Magnotti, F.1    Vitale, A.2    Rigante, D.3
  • 44
    • 0037387579 scopus 로고    scopus 로고
    • Intra-arterial tumor necrosis factor-α impairs endothelium-dependent vasodilatation and stimulates local tissue plasminogen activator release in humans
    • S. Chia, M. Qadan, R. Newton, C. A. Ludlam, K. A. A. Fox, and D. E. Newby, "Intra-arterial tumor necrosis factor-α impairs endothelium-dependent vasodilatation and stimulates local tissue plasminogen activator release in humans, " Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 23, no. 4, pp. 695-701, 2003.
    • (2003) Arteriosclerosis, Thrombosis, and Vascular Biology , vol.23 , Issue.4 , pp. 695-701
    • Chia, S.1    Qadan, M.2    Newton, R.3    Ludlam, C.A.4    Fox, K.A.A.5    Newby, D.E.6
  • 45
    • 50249188364 scopus 로고    scopus 로고
    • Clinical and functional characterisation of a novel TNFRSF1A c. 605TA/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment
    • S. Stojanov, C. Dejaco, P. Lohse et al. , "Clinical and functional characterisation of a novel TNFRSF1A c. 605TA/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment, " Annals of the Rheumatic Diseases, vol. 67, no. 9, pp. 1292-1298, 2008.
    • (2008) Annals of the Rheumatic Diseases , vol.67 , Issue.9 , pp. 1292-1298
    • Stojanov, S.1    Dejaco, C.2    Lohse, P.3
  • 46
    • 38849160958 scopus 로고    scopus 로고
    • Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome
    • article 217
    • F. C. Kimberley, A. A. Lobito, R. M. Siegel, and G. R. Screaton, "Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome, " Arthritis Research and Therapy, vol. 9, no. 4, article 217, 2007.
    • (2007) Arthritis Research and Therapy , vol.9 , Issue.4
    • Kimberley, F.C.1    Lobito, A.A.2    Siegel, R.M.3    Screaton, G.R.4
  • 47
    • 80855144615 scopus 로고    scopus 로고
    • Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis
    • A. Caminero, M. Comabella, and X. Montalban, "Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis, " Clinical and Experimental Immunology, vol. 166, no. 3, pp. 338-345, 2011.
    • (2011) Clinical and Experimental Immunology , vol.166 , Issue.3 , pp. 338-345
    • Caminero, A.1    Comabella, M.2    Montalban, X.3
  • 48
    • 13444310437 scopus 로고    scopus 로고
    • Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behcet's disease
    • Z. Amoura, C. Dode, S. Hue et al. , "Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behcet's disease, " Arthritis and Rheumatism, vol. 52, no. 2, pp. 608-611, 2005.
    • (2005) Arthritis and Rheumatism , vol.52 , Issue.2 , pp. 608-611
    • Amoura, Z.1    Dode, C.2    Hue, S.3
  • 49
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptorassociated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
    • K. M. Hull, E. Drewe, I. Aksentijevich et al. , "The TNF receptorassociated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder, " Medicine, vol. 81, no. 5, pp. 349-368, 2002.
    • (2002) Medicine , vol.81 , Issue.5 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3
  • 50
    • 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
    • M. F. McDermott, I. Aksentijevich, J. Galon et al. , "Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, " Cell, vol. 97, no. 1, pp. 133-144, 1999.
    • (1999) Cell , vol.97 , Issue.1 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3
  • 51
    • 3242680646 scopus 로고    scopus 로고
    • Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
    • E. Aganna, P. N. Hawkins, S. Ozen et al. , "Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis, " Genes and Immunity, vol. 5, no. 4, pp. 289-293, 2004.
    • (2004) Genes and Immunity , vol.5 , Issue.4 , pp. 289-293
    • Aganna, E.1    Hawkins, P.N.2    Ozen, S.3
  • 52
    • 78149272003 scopus 로고    scopus 로고
    • Role of etanercept in the treatment of tumor necrosis factor receptorassociated periodic syndrome: Personal experience and review of the literature
    • L. Cantarini, D. Rigante, O. M. Lucherini et al. , "Role of etanercept in the treatment of tumor necrosis factor receptorassociated periodic syndrome: personal experience and review of the literature, " International Journal of Immunopathology and Pharmacology, vol. 23, no. 3, pp. 701-707, 2010.
    • (2010) International Journal of Immunopathology and Pharmacology , vol.23 , Issue.3 , pp. 701-707
    • Cantarini, L.1    Rigante, D.2    Lucherini, O.M.3
  • 53
    • 43949128071 scopus 로고    scopus 로고
    • Persistent efficacy of anakinra in patients with tumor necrosis factor receptorassociated periodic syndrome
    • M. Gattorno, M. A. Pelagatti, A. Meini et al. , "Persistent efficacy of anakinra in patients with tumor necrosis factor receptorassociated periodic syndrome, " Arthritis and Rheumatism, vol. 58, no. 5, pp. 1516-1520, 2008.
    • (2008) Arthritis and Rheumatism , vol.58 , Issue.5 , pp. 1516-1520
    • Gattorno, M.1    Pelagatti, M.A.2    Meini, A.3
  • 54
    • 36448947978 scopus 로고    scopus 로고
    • Comment on: Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS)
    • E. Drewe, R. J. Powell, and E. M. Mcdermott, "Comment on: failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS), " Rheumatology, vol. 46, no. 12, pp. 1865-1866, 2007.
    • (2007) Rheumatology , vol.46 , Issue.12 , pp. 1865-1866
    • Drewe, E.1    Powell, R.J.2    Mcdermott, E.M.3
  • 55
    • 59649101629 scopus 로고    scopus 로고
    • Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome
    • B. Nedjai, G. A. Hitman, N. Quillinan et al. , "Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome, " Arthritis and Rheumatism, vol. 60, no. 2, pp. 619-625, 2009.
    • (2009) Arthritis and Rheumatism , vol.60 , Issue.2 , pp. 619-625
    • Nedjai, B.1    Hitman, G.A.2    Quillinan, N.3
  • 56
    • 84862731000 scopus 로고    scopus 로고
    • Successful treatment of tumor necrosis factor receptorassociated periodic syndrome with canakinumab
    • M. G. Brizi, M. Galeazzi, O. M. Lucherini, L. Cantarini, and R. Cimaz, "Successful treatment of tumor necrosis factor receptorassociated periodic syndrome with canakinumab, " Annals of Internal Medicine, vol. 156, no. 12, pp. 907-908, 2012.
    • (2012) Annals of Internal Medicine , vol.156 , Issue.12 , pp. 907-908
    • Brizi, M.G.1    Galeazzi, M.2    Lucherini, O.M.3    Cantarini, L.4    Cimaz, R.5
  • 57
    • 79551533377 scopus 로고    scopus 로고
    • Cryopyrin-associated periodic syndrome: An update on diagnosis and treatment response
    • J. R. Yu and K. S. Leslie, "Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response, " Current Allergy and Asthma Reports, vol. 11, no. 1, pp. 12-20, 2011.
    • (2011) Current Allergy and Asthma Reports , vol.11 , Issue.1 , pp. 12-20
    • Yu, J.R.1    Leslie, K.S.2
  • 58
    • 84856571891 scopus 로고    scopus 로고
    • Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes
    • L. Cantarini, O. M. Lucherini, B. Frediani et al. , "Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes, " International Journal of Immunopathology and Pharmacology, vol. 24, no. 4, pp. 827-836, 2011.
    • (2011) International Journal of Immunopathology and Pharmacology , vol.24 , Issue.4 , pp. 827-836
    • Cantarini, L.1    Lucherini, O.M.2    Frediani, B.3
  • 59
    • 33746876396 scopus 로고    scopus 로고
    • Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
    • R. Goldbach-Mansky, N. J. Dailey, S. W. Canna et al. , "Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition, " New England Journal of Medicine, vol. 355, no. 6, pp. 581-592, 2006.
    • (2006) New England Journal of Medicine , vol.355 , Issue.6 , pp. 581-592
    • Goldbach-Mansky, R.1    Dailey, N.J.2    Canna, S.W.3
  • 60
    • 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
    • B. Neven, I. Callebaut, A.-M. Prieur et al. , "Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU, " Blood, vol. 103, no. 7, pp. 2809-2815, 2004.
    • (2004) Blood , vol.103 , Issue.7 , pp. 2809-2815
    • Neven, B.1    Callebaut, I.2    Prieur, A.-M.3
  • 61
    • 84872736378 scopus 로고    scopus 로고
    • Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: A case series
    • A. Vitale, O. M. Lucherini, M. Galeazzi, B. Frediani, and L. Cantarini, "Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series, " Clinical and Experimental Rheumatology, vol. 30, no. 6, pp. 943-946, 2012.
    • (2012) Clinical and Experimental Rheumatology , vol.30 , Issue.6 , pp. 943-946
    • Vitale, A.1    Lucherini, O.M.2    Galeazzi, M.3    Frediani, B.4    Cantarini, L.5
  • 62
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • L. Agostini, F. Martinon, K. Burns, M. F. McDermott, P. N. Hawkins, and J. Tschopp, "NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder, " Immunity, vol. 20, no. 3, pp. 319-325, 2004.
    • (2004) Immunity , vol.20 , Issue.3 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3    McDermott, M.F.4    Hawkins, P.N.5    Tschopp, J.6
  • 64
    • 79957456776 scopus 로고    scopus 로고
    • Current status of understanding the pathogenesis and management of patients with NOMID/ CINCA
    • R. Goldbach-Mansky, "Current status of understanding the pathogenesis and management of patients with NOMID/ CINCA, " Current Rheumatology Reports, vol. 13, no. 2, pp. 123-131, 2011.
    • (2011) Current Rheumatology Reports , vol.13 , Issue.2 , pp. 123-131
    • Goldbach-Mansky, R.1
  • 65
    • 28844494900 scopus 로고    scopus 로고
    • The CATERPILLER protein Monarch-1 is an antagonist of tolllike receptor-, tumor necrosis factor α-, and Mycobacterium tuberculosis-induced pro-inflammatory signals
    • K. L. Williams, J. D. Lich, J. A. Duncan et al. , "The CATERPILLER protein Monarch-1 is an antagonist of tolllike receptor-, tumor necrosis factor α-, and Mycobacterium tuberculosis-induced pro-inflammatory signals, " Journal of Biological Chemistry, vol. 280, no. 48, pp. 39914-39924, 2005.
    • (2005) Journal of Biological Chemistry , vol.280 , Issue.48 , pp. 39914-39924
    • Williams, K.L.1    Lich, J.D.2    Duncan, J.A.3
  • 66
    • 2342464085 scopus 로고    scopus 로고
    • The two NF-αB activation pathways and their role in innate and adaptive immunity
    • G. Bonizzi and M. Karin, "The two NF-αB activation pathways and their role in innate and adaptive immunity, " Trends in Immunology, vol. 25, no. 6, pp. 280-288, 2004.
    • (2004) Trends in Immunology , vol.25 , Issue.6 , pp. 280-288
    • Bonizzi, G.1    Karin, M.2
  • 67
    • 79953702540 scopus 로고    scopus 로고
    • Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
    • S. Borghini, S. Tassi, S. Chiesa et al. , "Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation, " Arthritis and Rheumatism, vol. 63, no. 3, pp. 830-839, 2011.
    • (2011) Arthritis and Rheumatism , vol.63 , Issue.3 , pp. 830-839
    • Borghini, S.1    Tassi, S.2    Chiesa, S.3
  • 69
    • 79959840140 scopus 로고    scopus 로고
    • Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy
    • I. Jeru, V. Hentgen, S. Normand et al. , "Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy, "Arthritis and Rheumatism, vol. 63, no. 7, pp. 2142-2148, 2011.
    • (2011) Arthritis and Rheumatism , vol.63 , Issue.7 , pp. 2142-2148
    • Jeru, I.1    Hentgen, V.2    Norm, S.3
  • 70
    • 0022213722 scopus 로고
    • Familial granulomatous arthritis, iritis, and rash
    • E. B. Blau, "Familial granulomatous arthritis, iritis, and rash, " Journal of Pediatrics, vol. 107, no. 5, pp. 689-693, 1985.
    • (1985) Journal of Pediatrics , vol.107 , Issue.5 , pp. 689-693
    • Blau, E.B.1
  • 71
    • 33745465017 scopus 로고    scopus 로고
    • NOD2: Ethnic and geographic differences
    • J. Cavanaugh, "NOD2: ethnic and geographic differences, " World Journal of Gastroenterology, vol. 12, no. 23, pp. 3673-3677, 2006.
    • (2006) World Journal of Gastroenterology , vol.12 , Issue.23 , pp. 3673-3677
    • Cavanaugh, J.1
  • 72
    • 17944372335 scopus 로고    scopus 로고
    • CARD15 mutations in Blau syndrome
    • C. Miceli-Richard, S. Lesage, M. Rybojad et al. , "CARD15 mutations in Blau syndrome, " Nature Genetics, vol. 29, no. 1, pp. 19-20, 2001.
    • (2001) Nature Genetics , vol.29 , Issue.1 , pp. 19-20
    • Miceli-Richard, C.1    Lesage, S.2    Rybojad, M.3
  • 73
    • 19944431022 scopus 로고    scopus 로고
    • Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-αB activation: Common genetic etiology with Blau syndrome
    • N. Kanazawa, I. Okafuji, N. Kambe et al. , "Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-αB activation: common genetic etiology with Blau syndrome, " Blood, vol. 105, no. 3, pp. 1195-1197, 2005.
    • (2005) Blood , vol.105 , Issue.3 , pp. 1195-1197
    • Kanazawa, N.1    Okafuji, I.2    Kambe, N.3
  • 74
    • 13444281923 scopus 로고    scopus 로고
    • Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis
    • C. D. Rose, T. M. Doyle, G. McIlvain-Simpson et al. , "Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis, " Journal of Rheumatology, vol. 32, no. 2, pp. 373-375, 2005.
    • (2005) Journal of Rheumatology , vol.32 , Issue.2 , pp. 373-375
    • Rose, C.D.1    Doyle, T.M.2    McIlvain-Simpson, G.3
  • 76
    • 0036846291 scopus 로고    scopus 로고
    • CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy
    • X. Wang, H. Kuivaniemi, G. Bonavita et al. , "CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy, "Arthritis and Rheumatism, vol. 46, no. 11, pp. 3041-3045, 2002.
    • (2002) Arthritis and Rheumatism , vol.46 , Issue.11 , pp. 3041-3045
    • Wang, X.1    Kuivaniemi, H.2    Bonavita, G.3
  • 77
    • 33645850142 scopus 로고    scopus 로고
    • Blau syndrome andrelatedgenetic disorders causing childhood arthritis
    • M. L. Becker and C. D. Rose, "Blau syndrome andrelatedgenetic disorders causing childhood arthritis, " Current rheumatology reports, vol. 7, no. 6, pp. 427-433, 2005.
    • (2005) Current Rheumatology Reports , vol.7 , Issue.6 , pp. 427-433
    • Becker, M.L.1    Rose, C.D.2
  • 78
    • 65649103757 scopus 로고    scopus 로고
    • A novel mutation in the NOD2 gene associated with Blau syndrome a Norwegian family with four affected members
    • N. Milman, K. Ursin, E. ROdevand, F. C. Nielsen, and T. V. O. Hansen, "A novel mutation in the NOD2 gene associated with Blau syndrome a Norwegian family with four affected members, " Scandinavian Journal of Rheumatology, vol. 38, no. 3, pp. 190-197, 2009.
    • (2009) Scandinavian Journal of Rheumatology , vol.38 , Issue.3 , pp. 190-197
    • Milman, N.1    Ursin, K.2    ROdevand, E.3    Nielsen, F.C.4    Hansen, T.V.O.5
  • 79
    • 33750345391 scopus 로고    scopus 로고
    • Pediatric granulomatous arthritis: An international registry
    • C. D. Rose, C. H. Wouters, S. Meiorin et al. , "Pediatric granulomatous arthritis: an international registry, " Arthritis and Rheumatism, vol. 54, no. 10, pp. 3337-3344, 2006.
    • (2006) Arthritis and Rheumatism , vol.54 , Issue.10 , pp. 3337-3344
    • Rose, C.D.1    Wouters, C.H.2    Meiorin, S.3
  • 80
    • 36048981805 scopus 로고    scopus 로고
    • NOD2 geneassociated pediatric granulomatous arthritis: Clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort
    • J. I. Arostegui, C. Arnal, R. Merino et al. , "NOD2 geneassociated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort, " Arthritis and Rheumatism, vol. 56, no. 11, pp. 3805-3813, 2007.
    • (2007) Arthritis and Rheumatism , vol.56 , Issue.11 , pp. 3805-3813
    • Arostegui, J.I.1    Arnal, C.2    Merino, R.3
  • 81
    • 58249095950 scopus 로고    scopus 로고
    • Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis
    • I. Okafuji, R. Nishikomori, N. Kanazawa et al. , "Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis, " Arthritis and Rheumatism, vol. 60, no. 1, pp. 242-250, 2009.
    • (2009) Arthritis and Rheumatism , vol.60 , Issue.1 , pp. 242-250
    • Okafuji, I.1    Nishikomori, R.2    Kanazawa, N.3
  • 82
    • 0032546250 scopus 로고    scopus 로고
    • Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature
    • S. Manouvrier-Hanu, B. Puech, F. Piette et al. , "Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature, " The American Journal of Medical Genetics, vol. 76, no. 3, pp. 217-221, 1998.
    • (1998) The American Journal of Medical Genetics , vol.76 , Issue.3 , pp. 217-221
    • Manouvrier-Hanu, S.1    Puech, B.2    Piette, F.3
  • 83
    • 0027227934 scopus 로고
    • Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis
    • S. A. Raphael, E. B. Blau, and S. H. Hsu, "Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis, "The American Journal of Diseases of Children, vol. 147, no. 8, pp. 842-848, 1993.
    • (1993) The American Journal of Diseases of Children , vol.147 , Issue.8 , pp. 842-848
    • Raphael, S.A.1    Blau, E.B.2    Hsu, S.H.3
  • 84
    • 0036895932 scopus 로고    scopus 로고
    • Multifocal choroiditis in patients with familial juvenile systemic granulomatosis
    • P. A. Latkany, D. A. Jabs, J. R. Smithet al. , "Multifocal choroiditis in patients with familial juvenile systemic granulomatosis, " The AmericanJournal of Ophthalmology, vol. 134, no. 6, pp. 897-904, 2002.
    • (2002) The AmericanJournal of Ophthalmology , vol.134 , Issue.6 , pp. 897-904
    • Latkany, P.A.1    Jabs, D.A.2    Smith, J.R.3
  • 85
    • 0141747229 scopus 로고    scopus 로고
    • Ocular manifestations in Blau syndrome associated with a CARD15/NOD2 mutation
    • T. Kurokawa, T. Kikuchi, K. Ohta, H. Imai, and N. Yoshimura, "Ocular manifestations in Blau syndrome associated with a CARD15/NOD2 mutation, " Ophthalmology, vol. 110, no. 10, pp. 2040-2044, 2003.
    • (2003) Ophthalmology , vol.110 , Issue.10 , pp. 2040-2044
    • Kurokawa, T.1    Kikuchi, T.2    Ohta, K.3    Imai, H.4    Yoshimura, N.5
  • 86
    • 33845189002 scopus 로고    scopus 로고
    • Blau syndrome associated with a CARD15/NOD2 mutation
    • B. Snyers and K. Dahan, "Blau syndrome associated with a CARD15/NOD2 mutation, " The American Journal of Ophthalmology, vol. 142, no. 6, pp. 1089-1092, 2006.
    • (2006) The American Journal of Ophthalmology , vol.142 , Issue.6 , pp. 1089-1092
    • Snyers, B.1    Dahan, K.2
  • 87
    • 0029981988 scopus 로고    scopus 로고
    • Liver involvement in familial granulomatous arthritis (Blau syndrome)
    • S. K. Saini and C. D. Rose, "Liver involvement in familial granulomatous arthritis (Blau syndrome), " Journal of Rheumatology, vol. 23, no. 2, pp. 396-399, 1996.
    • (1996) Journal of Rheumatology , vol.23 , Issue.2 , pp. 396-399
    • Saini, S.K.1    Rose, C.D.2
  • 88
    • 0031682554 scopus 로고    scopus 로고
    • Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions
    • S. See Ting, J. Ziegler, and E. Fischer, "Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions, " Journal of Pediatrics, vol. 133, no. 3, pp. 450-452, 1998.
    • (1998) Journal of Pediatrics , vol.133 , Issue.3 , pp. 450-452
    • See Ting, S.1    Ziegler, J.2    Fischer, E.3
  • 90
    • 77952250064 scopus 로고    scopus 로고
    • Sinus of valsalva aneurysm in Blau's syndrome
    • article 16
    • F. Mourad and A. Tang, "Sinus of valsalva aneurysm in Blau's syndrome, " Journal of Cardiothoracic Surgery, vol. 5, no. 1, article 16, 2010.
    • (2010) Journal of Cardiothoracic Surgery , vol.5 , Issue.1
    • Mourad, F.1    Tang, A.2
  • 91
    • 33845707639 scopus 로고    scopus 로고
    • Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation
    • N. Milman, C. B. Andersen, A. Hansen et al. , "Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation, " APMIS, vol. 114, no. 12, pp. 912-919, 2006.
    • (2006) APMIS , vol.114 , Issue.12 , pp. 912-919
    • Milman, N.1    Andersen, C.B.2    Hansen, A.3
  • 92
    • 74849116666 scopus 로고    scopus 로고
    • Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/blau syndrome: Its possible action and mechanism
    • K. Yasui, M. Yashiro, M. Tsuge et al. , "Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/blau syndrome: its possible action and mechanism, " Arthritis and Rheumatism, vol. 62, no. 1, pp. 250-257, 2010.
    • (2010) Arthritis and Rheumatism , vol.62 , Issue.1 , pp. 250-257
    • Yasui, K.1    Yashiro, M.2    Tsuge, M.3
  • 93
    • 66149099643 scopus 로고    scopus 로고
    • SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
    • S. T. Cliffe, J. M. Kramer, K. Hussain et al. , "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway, " Human Molecular Genetics, vol. 18, no. 12, pp. 2257-2265, 2009.
    • (2009) Human Molecular Genetics , vol.18 , Issue.12 , pp. 2257-2265
    • Cliffe, S.T.1    Kramer, J.M.2    Hussain, K.3
  • 94
    • 84876010343 scopus 로고    scopus 로고
    • Mutation in the SLC29A3 gene: A new cause of a monogenic, autoinflammatory condition
    • I. Melki, K. Lambot, L. Jonard et al. , "Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition, " Pediatrics, vol. 131, no. 4, pp. e1308-e1313, 2013.
    • (2013) Pediatrics , vol.131 , Issue.4 , pp. e1308-e1313
    • Melki, I.1    Lambot, K.2    Jonard, L.3
  • 95
    • 84888188037 scopus 로고    scopus 로고
    • Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a newmonogenic autoinflammatory syndrome
    • S. Senniappan, M. Hughes, P. Shah, V. Shah, J. P. Kaski, P. Brogan et al. , "Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a newmonogenic autoinflammatory syndrome, " Journal of Pediatric Endocrinology and Metabolism, vol. 26, no. 9-10, pp. 877-882, 2013.
    • (2013) Journal of Pediatric Endocrinology and Metabolism , vol.26 , Issue.9-10 , pp. 877-882
    • Senniappan, S.1    Hughes, M.2    Shah, P.3    Shah, V.4    Kaski, J.P.5    Brogan, P.6
  • 96
    • 59249084491 scopus 로고    scopus 로고
    • The proteasome: Overview of structure and functions
    • K. Tanaka, "The proteasome: overview of structure and functions, " Proceedings of the Japan Academy B, vol. 85, no. 1, pp. 12-36, 2009.
    • (2009) Proceedings of the Japan Academy B , vol.85 , Issue.1 , pp. 12-36
    • Tanaka, K.1
  • 97
    • 0027991677 scopus 로고
    • MHC class i expression in mice lacking the proteasome subunit LMP-7
    • H. J. Fehling, W. Swat, C. Laplace et al. , "MHC class I expression in mice lacking the proteasome subunit LMP-7, " Science, vol. 265, no. 5176, pp. 1234-1237, 1994.
    • (1994) Science , vol.265 , Issue.5176 , pp. 1234-1237
    • Fehling, H.J.1    Swat, W.2    Laplace, C.3
  • 98
    • 84890203542 scopus 로고    scopus 로고
    • Regulation of proteasome activity in health and disease
    • M. Schmidt and D. Finley, "Regulation of proteasome activity in health and disease, " Biochimica et Biophysica Acta, vol. 1843, no. 1, pp. 13-25, 2014.
    • (2014) Biochimica et Biophysica Acta , vol.1843 , Issue.1 , pp. 13-25
    • Schmidt, M.1    Finley, D.2
  • 99
    • 84943211442 scopus 로고
    • A syndrome with nodular erythema, elongated and thickened fingers, and emaciation
    • Y. Kitano, E. Matsunaga, T. Morimoto, N. Okada, and S. Sano, "A syndrome with nodular erythema, elongated and thickened fingers, and emaciation, " Archives of Dermatology, vol. 121, no. 8, pp. 1053-1056, 1985.
    • (1985) Archives of Dermatology , vol.121 , Issue.8 , pp. 1053-1056
    • Kitano, Y.1    Matsunaga, E.2    Morimoto, T.3    Okada, N.4    Sano, S.5
  • 100
    • 0027354738 scopus 로고
    • Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: A new syndrome
    • M. Tanaka, N. Miyatani, S. Yamada et al. , "Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome, " Internal Medicine, vol. 32, no. 1, pp. 42-45, 1993.
    • (1993) Internal Medicine , vol.32 , Issue.1 , pp. 42-45
    • Tanaka, M.1    Miyatani, N.2    Yamada, S.3
  • 101
    • 41849126317 scopus 로고    scopus 로고
    • A case of periodicfever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities
    • S. Kasagi, S. Kawano, T. Nakazawa et al. , "A case of periodicfever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities, "Modern Rheumatology, vol. 18, no. 2, pp. 203-207, 2008.
    • (2008) Modern Rheumatology , vol.18 , Issue.2 , pp. 203-207
    • Kasagi, S.1    Kawano, S.2    Nakazawa, T.3
  • 102
    • 80053397654 scopus 로고    scopus 로고
    • A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
    • A. Kitamura, Y. Maekawa, H. Uehara et al. , "A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans, " Journal of Clinical Investigation, vol. 121, no. 10, pp. 4150-4160, 2011.
    • (2011) Journal of Clinical Investigation , vol.121 , Issue.10 , pp. 4150-4160
    • Kitamura, A.1    Maekawa, Y.2    Uehara, H.3
  • 103
    • 77956579857 scopus 로고    scopus 로고
    • An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy
    • A. Garg, M. D. Hernandez, A. B. Sousa et al. , "An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy, " Journal of Clinical Endocrinology andMetabolism, vol. 95, no. 9, pp. E58-E63, 2010.
    • (2010) Journal of Clinical Endocrinology AndMetabolism , vol.95 , Issue.9 , pp. E58-E63
    • Garg, A.1    Hernandez, M.D.2    Sousa, A.B.3
  • 104
    • 0036257139 scopus 로고    scopus 로고
    • An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy
    • A. Megarbane, A. Sanders, E. Chouery, V. Delague, M. Medlej-Hashim, and P.-H. Torbey, "An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy, " Journal of Rheumatology, vol. 29, no. 5, pp. 1084-1087, 2002.
    • (2002) Journal of Rheumatology , vol.29 , Issue.5 , pp. 1084-1087
    • Megarbane, A.1    Sanders, A.2    Chouery, E.3    Delague, V.4    Medlej-Hashim, M.5    Torbey, P.-H.6
  • 105
    • 76249121423 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
    • A. Torrelo, S. Patel, I. Colmenero et al. , "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, " Journal of the American Academy of Dermatology, vol. 62, no. 3, pp. 489-495, 2010.
    • (2010) Journal of the American Academy of Dermatology , vol.62 , Issue.3 , pp. 489-495
    • Torrelo, A.1    Patel, S.2    Colmenero, I.3
  • 106
    • 80052836194 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: A case report
    • Y. Ramot, T. Czarnowicki, A. Maly, P. Navon-Elkan, and A. Zlotogorski, "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report, " Pediatric Dermatology, vol. 28, no. 5, pp. 538-541, 2011.
    • (2011) Pediatric Dermatology , vol.28 , Issue.5 , pp. 538-541
    • Ramot, Y.1    Czarnowicki, T.2    Maly, A.3    Navon-Elkan, P.4    Zlotogorski, A.5
  • 107
    • 0023266155 scopus 로고
    • An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper γ-globulinemia: Peculiar vascular changes andmuscle fiber degeneration
    • K. Oyanagi, K. Sasaki, E. Ohama et al. , "An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper γ-globulinemia: peculiar vascular changes andmuscle fiber degeneration, " Acta Neuropathologica, vol. 73, no. 4, pp. 313-319, 1987.
    • (1987) Acta Neuropathologica , vol.73 , Issue.4 , pp. 313-319
    • Oyanagi, K.1    Sasaki, K.2    Ohama, E.3
  • 108
    • 84862677492 scopus 로고    scopus 로고
    • Nakajo-Nishimura syndrome: An autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy
    • N. Kanazawa, "Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy, " Allergology International, vol. 61, no. 2, pp. 197-206, 2012.
    • (2012) Allergology International , vol.61 , Issue.2 , pp. 197-206
    • Kanazawa, N.1
  • 109
    • 80052565561 scopus 로고    scopus 로고
    • Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
    • K. Arima, A. Kinoshita, H. Mishima et al. , "Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome, " Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 36, pp. 14914-14919, 2011.
    • (2011) Proceedings of the National Academy of Sciences of the United States of America , vol.108 , Issue.36 , pp. 14914-14919
    • Arima, K.1    Kinoshita, A.2    Mishima, H.3
  • 110
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the β5i proteasome subunit ismutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • A. K. Agarwal, C. Xing, G. N. Demartino et al. , "PSMB8 encoding the β5i proteasome subunit ismutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome, " The American Journal of Human Genetics, vol. 87, no. 6, pp. 866-872, 2010.
    • (2010) The American Journal of Human Genetics , vol.87 , Issue.6 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    Demartino, G.N.3
  • 111
    • 84892415306 scopus 로고    scopus 로고
    • CANDLE syndrome: A report of a novel mutation and review of the literature
    • J. Kluk, M. Rustin, P. A. Brogan et al. , "CANDLE syndrome: a report of a novel mutation and review of the literature, " The British Journal of Dermatology, vol. 170, no. 1, pp. 215-217, 2014.
    • (2014) The British Journal of Dermatology , vol.170 , Issue.1 , pp. 215-217
    • Kluk, J.1    Rustin, M.2    Brogan, P.A.3
  • 112
    • 84954197287 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE): Clinical characterization and initial response to Janus kinase inhibition with baricitinib
    • ACR/ARHP Annual Meeting, abstract 1782
    • G. A. Montealegre Sanchez, A. L. Reinhardt, P. Brogan et al. , "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE): clinical characterization and initial response to Janus kinase inhibition with baricitinib, " Arthritis and Rheumatology, vol. 65, no. 10, Supplement, ACR/ARHP Annual Meeting, abstract 1782, 2013.
    • (2013) Arthritis and Rheumatology , vol.65 , Issue.10
    • Montealegre Sanchez, G.A.1    Reinhardt, A.L.2    Brogan, P.3
  • 113
    • 0344823965 scopus 로고    scopus 로고
    • Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    • N. G. Shoham, M. Centola, E. Mansfield et al. , "Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway, " Proceedings of the National Academy of Sciences of the United States of America, vol. 100, no. 23, pp. 13501-13506, 2003.
    • (2003) Proceedings of the National Academy of Sciences of the United States of America , vol.100 , Issue.23 , pp. 13501-13506
    • Shoham, N.G.1    Centola, M.2    Mansfield, E.3
  • 114
    • 0037091012 scopus 로고    scopus 로고
    • Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    • C. A. Wise, J. D. Gillum, C. E. Seidman et al. , "Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder, " Human Molecular Genetics, vol. 11, no. 8, pp. 961-969, 2002.
    • (2002) Human Molecular Genetics , vol.11 , Issue.8 , pp. 961-969
    • Wise, C.A.1    Gillum, J.D.2    Seidman, C.E.3
  • 115
    • 0033912687 scopus 로고    scopus 로고
    • Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
    • H. B. Yeon, N. M. Lindor, J. G. Seidman, and C. E. Seidman, "Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q, " The American Journal of Human Genetics, vol. 66, no. 4, pp. 1443-1448, 2000.
    • (2000) The American Journal of Human Genetics , vol.66 , Issue.4 , pp. 1443-1448
    • Yeon, H.B.1    Lindor, N.M.2    Seidman, J.G.3    Seidman, C.E.4
  • 116
    • 9744236591 scopus 로고    scopus 로고
    • Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patientwith PAPAsyndrome
    • E. Cortis, F. De Benedetti, A. Insalaco et al. , "Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patientwith PAPAsyndrome, " Journal of Pediatrics, vol. 145, no. 6, pp. 851-855, 2004.
    • (2004) Journal of Pediatrics , vol.145 , Issue.6 , pp. 851-855
    • Cortis, E.1    De Benedetti, F.2    Insalaco, A.3
  • 117
    • 19644375183 scopus 로고    scopus 로고
    • Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome
    • D. S. Stichweh, M. Punaro, and V. Pascual, "Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome, " Pediatric Dermatology, vol. 22, no. 3, pp. 262-265, 2005.
    • (2005) Pediatric Dermatology , vol.22 , Issue.3 , pp. 262-265
    • Stichweh, D.S.1    Punaro, M.2    Pascual, V.3
  • 118
    • 14944380059 scopus 로고    scopus 로고
    • Anakinra for flares of pyogenic arthritis in PAPA syndrome
    • M. P. Dierselhuis, J. Frenkel, N. M. Wulffraat, and J. J. Boelens, "Anakinra for flares of pyogenic arthritis in PAPA syndrome, " Rheumatology, vol. 44, no. 3, pp. 406-408, 2005.
    • (2005) Rheumatology , vol.44 , Issue.3 , pp. 406-408
    • Dierselhuis, M.P.1    Frenkel, J.2    Wulffraat, N.M.3    Boelens, J.J.4
  • 119
    • 77954411809 scopus 로고    scopus 로고
    • Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients
    • M. F. J. Andre, O. Aumaitre, G. Grateau et al. , "Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with crohn disease in French patients, " Digestive Diseases and Sciences, vol. 55, no. 6, pp. 1681-1688, 2010.
    • (2010) Digestive Diseases and Sciences , vol.55 , Issue.6 , pp. 1681-1688
    • Andre, M.F.J.1    Aumaitre, O.2    Grateau, G.3
  • 120
    • 66649113371 scopus 로고    scopus 로고
    • An autoinflammatory disease due to homozygous deletion of the IL1RN locus
    • S. Reddy, S. Jia, R. Geoffrey et al. , "An autoinflammatory disease due to homozygous deletion of the IL1RN locus, " New England Journal of Medicine, vol. 360, no. 23, pp. 2438-2444, 2009.
    • (2009) New England Journal of Medicine , vol.360 , Issue.23 , pp. 2438-2444
    • Reddy, S.1    Jia, S.2    Geoffrey, R.3
  • 121
    • 66649121678 scopus 로고    scopus 로고
    • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    • I. Aksentijevich, S. L. Masters, P. J. Ferguson et al. , "An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist, " New England Journal ofMedicine, vol. 360, no. 23, pp. 2426-2437, 2009.
    • (2009) New England Journal OfMedicine , vol.360 , Issue.23 , pp. 2426-2437
    • Aksentijevich, I.1    Masters, S.L.2    Ferguson, P.J.3
  • 122
    • 84887621115 scopus 로고    scopus 로고
    • Deficiency of interleukin-1 receptor antagonist responsive to anakinra
    • C. Schnellbacher, G. Ciocca, R. Menendez et al. , "Deficiency of interleukin-1 receptor antagonist responsive to anakinra, " Pediatric Dermatology, vol. 30, no. 6, pp. 758-760, 2013.
    • (2013) Pediatric Dermatology , vol.30 , Issue.6 , pp. 758-760
    • Schnellbacher, C.1    Ciocca, G.2    Menendez, R.3
  • 123
    • 84860390352 scopus 로고    scopus 로고
    • Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis
    • S. Marrakchi, P. Guigue, B. R. Renshaw et al. , "Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis, " New England Journal of Medicine, vol. 365, no. 7, pp. 620-628, 2011.
    • (2011) New England Journal of Medicine , vol.365 , Issue.7 , pp. 620-628
    • Marrakchi, S.1    Guigue, P.2    Renshaw, B.R.3
  • 124
    • 80052744921 scopus 로고    scopus 로고
    • Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
    • A. Onoufriadis, M. A. Simpson, A. E. Pink et al. , "Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis, " The American Journal ofHuman Genetics, vol. 89, no. 3, pp. 432-437, 2011.
    • (2011) The American Journal OfHuman Genetics , vol.89 , Issue.3 , pp. 432-437
    • Onoufriadis, A.1    Simpson, M.A.2    Pink, A.E.3
  • 125
    • 84885089223 scopus 로고    scopus 로고
    • First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra
    • L. Rossi-Semerano, M. Piram, C. Chiaverini, D. De Ricaud, A. Smahi, and I. Kone-Paut, "First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra, " Pediatrics, vol. 132, no. 4, pp. e1043-e1047, 2013.
    • (2013) Pediatrics , vol.132 , Issue.4 , pp. e1043-e1047
    • Rossi-Semerano, L.1    Piram, M.2    Chiaverini, C.3    De Ricaud, D.4    Smahi, A.5    Kone-Paut, I.6
  • 126
    • 0024466508 scopus 로고
    • Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings
    • H. A. Majeed, M. Kalaawi, D. Mohanty et al. , "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings, " The Journal of Pediatrics, vol. 115, no. 5, pp. 730-734, 1989.
    • (1989) The Journal of Pediatrics , vol.115 , Issue.5 , pp. 730-734
    • Majeed, H.A.1    Kalaawi, M.2    Mohanty, D.3
  • 127
    • 84859514658 scopus 로고    scopus 로고
    • Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages
    • M. Valdearcos, E. Esquinas, C. Meana et al. , "Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages, " Journal of Biological Chemistry, vol. 287, no. 14, pp. 10894-10904, 2012.
    • (2012) Journal of Biological Chemistry , vol.287 , Issue.14 , pp. 10894-10904
    • Valdearcos, M.1    Esquinas, E.2    Meana, C.3
  • 129
    • 84873726217 scopus 로고    scopus 로고
    • Efficacy of anti-IL-1 treatment in Majeed syndrome
    • T. Herlin, B. Fiirgaard, M. Bjerre et al. , "Efficacy of anti-IL-1 treatment in Majeed syndrome, " Annals of the Rheumatic Diseases, vol. 72, no. 3, pp. 410-413, 2013.
    • (2013) Annals of the Rheumatic Diseases , vol.72 , Issue.3 , pp. 410-413
    • Herlin, T.1    Fiirgaard, B.2    Bjerre, M.3
  • 131
    • 0035011038 scopus 로고    scopus 로고
    • Chronic recurrent multifocal osteomyelitis in children: A report of 17 cases
    • E. Coinde, L. David, J. Cottalorda et al. , "Chronic recurrent multifocal osteomyelitis in children: a report of 17 cases, " Archives de Pediatrie, vol. 8, no. 6, pp. 577-583, 2001.
    • (2001) Archives de Pediatrie , vol.8 , Issue.6 , pp. 577-583
    • Coinde, E.1    David, L.2    Cottalorda, J.3
  • 132
    • 70349569595 scopus 로고    scopus 로고
    • Imaging of chronic recurrent Multifocal Osteomyelitis
    • G. Khanna, T. S. P. Sato, and P. Ferguson, "Imaging of chronic recurrent Multifocal Osteomyelitis, " Radiographics, vol. 29, no. 4, pp. 1159-1177, 2009.
    • (2009) Radiographics , vol.29 , Issue.4 , pp. 1159-1177
    • Khanna, G.1    Sato, T.S.P.2    Ferguson, P.3
  • 133
    • 76649085191 scopus 로고    scopus 로고
    • Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: A study of PSTPIP2, NOD2, and LPIN2 genes
    • M. Hurtado-Nedelec, S. Chollet-Martin, D. Chapeton, J.-P. Hugot, G. Hayem, and B. Gerard, "Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes, " Journal of Rheumatology, vol. 37, no. 2, pp. 401-409, 2010.
    • (2010) Journal of Rheumatology , vol.37 , Issue.2 , pp. 401-409
    • Hurtado-Nedelec, M.1    Chollet-Martin, S.2    Chapeton, D.3    Hugot, J.-P.4    Hayem, G.5    Gerard, B.6
  • 134
    • 84857606314 scopus 로고    scopus 로고
    • Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence
    • C. Beck, H. J. Girschick, H. Morbach et al. , "Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence, " Clinical and Experimental Rheumatology, vol. 29, no. 6, pp. 1040-1043, 2011.
    • (2011) Clinical and Experimental Rheumatology , vol.29 , Issue.6 , pp. 1040-1043
    • Beck, C.1    Girschick, H.J.2    Morbach, H.3
  • 135
    • 34347242844 scopus 로고    scopus 로고
    • Successful treatment of chronic recurrentmultifocal osteomyelitis with indomethacin: A preliminary report of five cases
    • J. C. Abril and A. Ramirez, "Successful treatment of chronic recurrentmultifocal osteomyelitis with indomethacin: a preliminary report of five cases, " Journal of Pediatric Orthopaedics, vol. 27, no. 5, pp. 587-591, 2007.
    • (2007) Journal of Pediatric Orthopaedics , vol.27 , Issue.5 , pp. 587-591
    • Abril, J.C.1    Ramirez, A.2
  • 137
    • 5444268031 scopus 로고    scopus 로고
    • Pamidronate in the treatment of childhood SAPHO syndrome
    • C. Kerrison, J. E. Davidson, A. G. Cleary, and M. W. Beresford, "Pamidronate in the treatment of childhood SAPHO syndrome, " Rheumatology, vol. 43, no. 10, pp. 1246-1251, 2004.
    • (2004) Rheumatology , vol.43 , Issue.10 , pp. 1246-1251
    • Kerrison, C.1    Davidson, J.E.2    Cleary, A.G.3    Beresford, M.W.4
  • 138
    • 60649093718 scopus 로고    scopus 로고
    • Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO)
    • Kellner article 2
    • P. M. H. Miettunen, X. Wei, D. Kaura, W. A. Reslan, A. N. Aguirre, and J. D. Kellner, "Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO), " Pediatric Rheumatology, vol. 7, article 2, 2009.
    • (2009) Pediatric Rheumatology , vol.7
    • Miettunen, P.M.H.1    Wei, X.2    Kaura, D.3    Reslan, W.A.4    Aguirre, A.N.5
  • 139
    • 77951667222 scopus 로고    scopus 로고
    • Chronic recurrent multifocal osteomyelitis primarily affecting the spine treated with Anti-TNF therapy
    • R. G. Marangoni and A. S. R. Halpern, "Chronic recurrent multifocal osteomyelitis primarily affecting the spine treated with Anti-TNF therapy, " Spine, vol. 35, no. 7, pp. E253-E256, 2010.
    • (2010) Spine , vol.35 , Issue.7 , pp. E253-E256
    • Marangoni, R.G.1    Halpern, A.S.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.