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Volumn 33, Issue 11, 2014, Pages 1681-1684

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature

Author keywords

Anakinra; Hyper IgD syndrome; Mevalonate kinase deficiency; Remission

Indexed keywords

ACICLOVIR; C REACTIVE PROTEIN; IBUPROFEN; IMMUNOGLOBULIN A; PARACETAMOL; PREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; ANTIINFLAMMATORY AGENT; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

EID: 84919402945     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-014-2523-4     Document Type: Review
Times cited : (12)

References (19)
  • 1
    • 84857115753 scopus 로고    scopus 로고
    • Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome
    • PID: 20020131
    • Shendi HM, Walsh D, Edgar JD (2012) Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome. Rheumatol Int 32:249–251
    • (2012) Rheumatol Int , vol.32 , pp. 249-251
    • Shendi, H.M.1    Walsh, D.2    Edgar, J.D.3
  • 3
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
    • PID: 10369262, COI: 1:CAS:528:DyaK1MXjvVelsbc%3D
    • Drenth JPH, Cuisset L, Grateau G et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 22:178–181
    • (1999) Nat Genet , vol.22 , pp. 178-181
    • Drenth, J.P.H.1    Cuisset, L.2    Grateau, G.3
  • 4
    • 37049014725 scopus 로고    scopus 로고
    • Auto inflammatory syndromes: diagnosis and treatment
    • PID: 17950649
    • Stankovic K, Grateau G (2007) Auto inflammatory syndromes: diagnosis and treatment. Joint Bone Spine 74:544–550
    • (2007) Joint Bone Spine , vol.74 , pp. 544-550
    • Stankovic, K.1    Grateau, G.2
  • 5
    • 44449086297 scopus 로고    scopus 로고
    • Diagnosis and management of autoinflammatory diseases in childhood
    • PID: 18368292
    • Gattorno M, Federici S, Pelagatti MA et al (2008) Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 28(S1):S73–S83
    • (2008) J Clin Immunol , vol.28 , Issue.S1 , pp. S73-S83
    • Gattorno, M.1    Federici, S.2    Pelagatti, M.A.3
  • 6
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International hyper-IgD study group
    • PID: 8190036, COI: 1:STN:280:DyaK2c3kslaqsg%3D%3D
    • Drenth JPH, Haagsma CJ, van der Meer JW (1994) Hyperimmunoglobulinaemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International hyper-IgD study group. Medicine 73:133–144
    • (1994) Medicine , vol.73 , pp. 133-144
    • Drenth, J.P.H.1    Haagsma, C.J.2    van der Meer, J.W.3
  • 7
    • 58149195381 scopus 로고    scopus 로고
    • Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulin D syndrome
    • PID: 19011501
    • van der Hilst JC, Bodar EJ, Barron KS et al (2008) Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulin D syndrome. Medicine 87:301–310
    • (2008) Medicine , vol.87 , pp. 301-310
    • van der Hilst, J.C.1    Bodar, E.J.2    Barron, K.S.3
  • 8
    • 79959933887 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency: a survey of 50 patients
    • Bader-Meunier B, Florkin B, Sibilia J et al (2011) Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 28:e152–e159
    • (2011) Pediatrics , vol.28 , pp. e152-e159
    • Bader-Meunier, B.1    Florkin, B.2    Sibilia, J.3
  • 9
    • 2042501706 scopus 로고    scopus 로고
    • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • PID: 15116060, COI: 1:CAS:528:DC%2BD2cXjs1Cjtbk%3D
    • Simon A, Drewe E, van der Meer JW et al (2004) Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 75:476–483
    • (2004) Clin Pharmacol Ther , vol.75 , pp. 476-483
    • Simon, A.1    Drewe, E.2    van der Meer, J.W.3
  • 10
    • 0036822810 scopus 로고    scopus 로고
    • Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome
    • PID: 12384940, COI: 1:CAS:528:DC%2BD38XovVWitbk%3D
    • Frenkel J, Rijkers GT, Mandey SH et al (2002) Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 46:2794–2803
    • (2002) Arthritis Rheum , vol.46 , pp. 2794-2803
    • Frenkel, J.1    Rijkers, G.T.2    Mandey, S.H.3
  • 11
    • 0038724543 scopus 로고    scopus 로고
    • Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
    • PID: 12861380, COI: 1:CAS:528:DC%2BD3sXls1Wqsrw%3D
    • Houten SM, Frenkel J, Waterham HR (2003) Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 60:1118–1134
    • (2003) Cell Mol Life Sci , vol.60 , pp. 1118-1134
    • Houten, S.M.1    Frenkel, J.2    Waterham, H.R.3
  • 12
    • 77953478561 scopus 로고    scopus 로고
    • Hyperimmunoglobulin D syndrome in childhood
    • PID: 20425018
    • van der Hilst JC, Frenkel J (2010) Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep 12:101–107
    • (2010) Curr Rheumatol Rep , vol.12 , pp. 101-107
    • van der Hilst, J.C.1    Frenkel, J.2
  • 13
    • 33750965780 scopus 로고    scopus 로고
    • A role for geranylgeranylation in interleukin-1beta secretion
    • PID: 17075828, COI: 1:CAS:528:DC%2BD28Xht12mtLfE
    • Mandey SH, Kuijk LM, Frenkel J, Waterham HR (2006) A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 54:3690–3695
    • (2006) Arthritis Rheum , vol.54 , pp. 3690-3695
    • Mandey, S.H.1    Kuijk, L.M.2    Frenkel, J.3    Waterham, H.R.4
  • 14
    • 40349108709 scopus 로고    scopus 로고
    • Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1
    • PID: 18242710, COI: 1:CAS:528:DC%2BD1cXivFKjs78%3D
    • Kuijk LM, Mandey SH, Schellens I et al (2008) Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 45:2158–2165
    • (2008) Mol Immunol , vol.45 , pp. 2158-2165
    • Kuijk, L.M.1    Mandey, S.H.2    Schellens, I.3
  • 15
    • 55749113358 scopus 로고    scopus 로고
    • HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation
    • PID: 18684863, COI: 1:CAS:528:DC%2BD1cXhtlCntrrO
    • Kuijk LM, Beekman JM, Koster J et al (2008) HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 112:3563–3573
    • (2008) Blood , vol.112 , pp. 3563-3573
    • Kuijk, L.M.1    Beekman, J.M.2    Koster, J.3
  • 16
    • 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
    • PID: 19825518, COI: 1:CAS:528:DC%2BD1MXhsVSlurbL
    • Normand S, Massonnet B, Delwail A et al (2009) 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 20:101–107
    • (2009) Eur Cytokine Netw , vol.20 , pp. 101-107
    • Normand, S.1    Massonnet, B.2    Delwail, A.3
  • 17
    • 84875963811 scopus 로고    scopus 로고
    • Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
    • PID: 22753383
    • Ter Haar N, Lachmann H, Özen S et al (2013) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678–685
    • (2013) Ann Rheum Dis , vol.72 , pp. 678-685
    • Ter Haar, N.1    Lachmann, H.2    Özen, S.3
  • 18
    • 84867131436 scopus 로고    scopus 로고
    • Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency
    • PID: 22740624, COI: 1:CAS:528:DC%2BC38XhsVWgsL3O
    • Galeotti C, Meinzer U, Quartier P et al (2012) Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatology 51:1855–1859
    • (2012) Rheumatology , vol.51 , pp. 1855-1859
    • Galeotti, C.1    Meinzer, U.2    Quartier, P.3
  • 19
    • 84860389029 scopus 로고    scopus 로고
    • On-demand anakinra treatment is effective in mevalonate kinase deficiency
    • PID: 21859689, COI: 1:STN:280:DC%2BC3Mbmt1ehsQ%3D%3D
    • Bodar EJ, Kuijk LM, Drenth JPH et al (2011) On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 70:2155–2158
    • (2011) Ann Rheum Dis , vol.70 , pp. 2155-2158
    • Bodar, E.J.1    Kuijk, L.M.2    Drenth, J.P.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.