메뉴 건너뛰기




Volumn 37, Issue 4, 2015, Pages 371-376

Hyper-IgD syndrome/mevalonate kinase deficiency: What is new?

Author keywords

[No Author keywords available]

Indexed keywords

ADALIMUMAB; CANAKINUMAB; INTERLEUKIN 1BETA; MEVALONATE KINASE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; TOCILIZUMAB;

EID: 84943452673     PISSN: 18632297     EISSN: 18632300     Source Type: Journal    
DOI: 10.1007/s00281-015-0492-6     Document Type: Review
Times cited : (48)

References (48)
  • 3
    • 0029978480 scopus 로고    scopus 로고
    • Immunoglobulin D enhances the release of tumor necrosis factoralpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells
    • Drenth JP, Goertz J, Daha MR, van der Meer JW (1996) Immunoglobulin D enhances the release of tumor necrosis factoralpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology 88(3):355–362
    • (1996) Immunology , vol.88 , Issue.3 , pp. 355-362
    • Drenth, J.P.1    Goertz, J.2    Daha, M.R.3    Van Der Meer, J.W.4
  • 4
    • 0036822810 scopus 로고    scopus 로고
    • Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome
    • Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, Waterham HR, Kuis W (2002) Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 46(10):2794–2803. doi:10.1002/art.10550
    • (2002) Arthritis Rheum , vol.46 , Issue.10 , pp. 2794-2803
    • Frenkel, J.1    Rijkers, G.T.2    Mandey, S.H.3    Buurman, S.W.4    Houten, S.M.5    Wanders, R.J.6    Waterham, H.R.7    Kuis, W.8
  • 5
    • 55749113358 scopus 로고    scopus 로고
    • HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation
    • Kuijk LM, Beekman JM, Koster J, Waterham HR, Frenkel J, Coffer PJ (2008) HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 112(9):3563–3573. doi:10.1182/blood-2008-03-144667
    • (2008) Blood , vol.112 , Issue.9 , pp. 3563-3573
    • Kuijk, L.M.1    Beekman, J.M.2    Koster, J.3    Waterham, H.R.4    Frenkel, J.5    Coffer, P.J.6
  • 6
    • 40349108709 scopus 로고    scopus 로고
    • Statin synergizes with LPS to induce IL- 1beta release by THP-1 cells through activation of caspase-1
    • Kuijk LM, Mandey SH, Schellens I, Waterham HR, Rijkers GT, Coffer PJ, Frenkel J (2008) Statin synergizes with LPS to induce IL- 1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 45(8):2158–2165. doi:10.1016/j.molimm.2007.12.008
    • (2008) Mol Immunol , vol.45 , Issue.8 , pp. 2158-2165
    • Kuijk, L.M.1    Mandey, S.H.2    Schellens, I.3    Waterham, H.R.4    Rijkers, G.T.5    Coffer, P.J.6    Frenkel, J.7
  • 7
    • 77953806728 scopus 로고    scopus 로고
    • The inhibition of mevalonate pathway induces upregulation of NALP3 expression: New insight in the pathogenesis of mevalonate kinase deficiency
    • Pontillo A, Paoluzzi E, Crovella S (2010) The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency. Eur J Human Genet: EJHG 18(7):844–847. doi:10.1038/ejhg.2010.9
    • (2010) Eur J Human Genet: EJHG , vol.18 , Issue.7 , pp. 844-847
    • Pontillo, A.1    Paoluzzi, E.2    Crovella, S.3
  • 8
    • 84860389029 scopus 로고    scopus 로고
    • On-demand anakinra treatment is effective in mevalonate kinase deficiency
    • Bodar EJ, Kuijk LM, Drenth JP, van der Meer JW, Simon A, Frenkel J (2011) On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 70(12):2155–2158. doi:10.1136/ard.2011.149922
    • (2011) Ann Rheum Dis , vol.70 , Issue.12 , pp. 2155-2158
    • Bodar, E.J.1    Kuijk, L.M.2    Drenth, J.P.3    Van Der Meer, J.W.4    Simon, A.5    Frenkel, J.6
  • 9
    • 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 (2005) Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 63(7):260–264
    • (2005) Neth J Med , vol.63 , Issue.7 , 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
  • 11
    • 84925581849 scopus 로고    scopus 로고
    • TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome
    • Stoffels M, Jongekrijg J, Remijn T, Kok N, van der Meer JW, Simon A (2015) TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome. Rheumatology 54(2):363–368. doi:10.1093/rheumatology/keu341
    • (2015) Rheumatology , vol.54 , Issue.2 , pp. 363-368
    • Stoffels, M.1    Jongekrijg, J.2    Remijn, T.3    Kok, N.4    Van Der Meer, J.W.5    Simon, A.6
  • 12
    • 77951838958 scopus 로고    scopus 로고
    • Natural isoprenoids inhibit LPS-induced-production of cytokines and nitric oxide in aminobisphosphonate-treated monocytes
    • Marcuzzi A, Tommasini A, Crovella S, Pontillo A (2010) Natural isoprenoids inhibit LPS-induced-production of cytokines and nitric oxide in aminobisphosphonate-treated monocytes. Int Immunopharmacol 10(6):639–642. doi:10.1016/j.intimp.2010.03.008
    • (2010) Int Immunopharmacol , vol.10 , Issue.6 , pp. 639-642
    • Marcuzzi, A.1    Tommasini, A.2    Crovella, S.3    Pontillo, A.4
  • 14
    • 84899144232 scopus 로고    scopus 로고
    • Block of the mevalonate pathway triggers oxidative and inflammatorymolecular mechanisms modulated by exogenous isoprenoid compounds.
    • Tricarico PM, Kleiner G, Valencic E, Campisciano G, Girardelli M, Crovella S, Knowles A, Marcuzzi A (2014) Block of the mevalonate pathway triggers oxidative and inflammatorymolecular mechanisms modulated by exogenous isoprenoid compounds. Int J Mol Sci 15(4):6843–6856. doi:10.3390/ijms15046843
    • (2014) Int J Mol Sci , vol.15 , Issue.4 , pp. 6843-6856
    • Tricarico, P.M.1    Kleiner, G.2    Valencic, E.3    Campisciano, G.4    Girardelli, M.5    Crovella, S.6    Knowles, A.7    Marcuzzi, A.8
  • 15
    • 84892684145 scopus 로고    scopus 로고
    • Systemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: A straincomparative study
    • Kleiner G, Celsi F, Tricarico PM, Zacchigna S, Crovella S, Marcuzzi A (2013) Systemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: a straincomparative study. In Vivo 27(6):715–722
    • (2013) Vivo , vol.27 , Issue.6 , pp. 715-722
    • Kleiner, G.1    Celsi, F.2    Tricarico, P.M.3    Zacchigna, S.4    Crovella, S.5    Marcuzzi, A.6
  • 17
    • 84863327928 scopus 로고    scopus 로고
    • Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)
    • Hager EJ, Piganelli JD, Tse HM, Gibson KM (2012) Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). J Inherit Metab Dis 35(1):159–168. doi:10.1007/s10545-011-9349-x
    • (2012) J Inherit Metab Dis , vol.35 , Issue.1 , pp. 159-168
    • Hager, E.J.1    Piganelli, J.D.2    Tse, H.M.3    Gibson, K.M.4
  • 18
    • 52649173797 scopus 로고    scopus 로고
    • Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency
    • Marcuzzi A, Pontillo A, De Leo L, Tommasini A, Decorti G, Not T, Ventura A (2008) Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency. Pediatr Res 64(2):177–182. doi:10.1203/PDR.0b013e3181761870
    • (2008) Pediatr Res , vol.64 , Issue.2 , pp. 177-182
    • Marcuzzi, A.1    Pontillo, A.2    De Leo, L.3    Tommasini, A.4    Decorti, G.5    Not, T.6    Ventura, A.7
  • 19
    • 79952027845 scopus 로고    scopus 로고
    • Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency
    • Marcuzzi A, Crovella S, Pontillo A (2011) Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency. In vivo 25(1):87–92
    • (2011) Vivo , vol.25 , Issue.1 , pp. 87-92
    • Marcuzzi, A.1    Crovella, S.2    Pontillo, A.3
  • 20
    • 84883658780 scopus 로고    scopus 로고
    • Mouse model of mevalonate kinase deficiency: Comparison of cytokine and chemokine profile with that of human patients
    • Marcuzzi A, Zanin V, Kleiner G, Monasta L, Crovella S (2013) Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients. Pediatr Res 74(3):266–271. doi:10.1038/pr.2013.96
    • (2013) Pediatr Res , vol.74 , Issue.3 , pp. 266-271
    • Marcuzzi, A.1    Zanin, V.2    Kleiner, G.3    Monasta, L.4    Crovella, S.5
  • 22
    • 33750965780 scopus 로고    scopus 로고
    • A role for geranylgeranylation in interleukin-1beta secretion
    • Mandey SH, Kuijk LM, Frenkel J, Waterham HR (2006) A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 54(11):3690–3695. doi:10.1002/art.22194
    • (2006) Arthritis Rheum , vol.54 , Issue.11 , pp. 3690-3695
    • Mandey, S.H.1    Kuijk, L.M.2    Frenkel, J.3    Waterham, H.R.4
  • 23
    • 84873312422 scopus 로고    scopus 로고
    • HMG-CoA reductase inhibitors activate caspase-1 in human monocytes depending on ATP release and P2X7 activation
    • Liao Y-H, Lin Y-C, Tsao S-T, Lin Y-C, Yang A-J, Huang C-T, Huang K-C, Lin WW (2013) HMG-CoA reductase inhibitors activate caspase-1 in human monocytes depending on ATP release and P2X7 activation. J Leukoc Biol 93(2):289–299
    • (2013) J Leukoc Biol , vol.93 , Issue.2 , pp. 289-299
    • Liao, Y.-H.1    Lin, Y.-C.2    Tsao, S.-T.3    Lin, Y.-C.4    Yang, A.-J.5    Huang, C.-T.6    Huang, K.-C.7    Lin, W.W.8
  • 24
    • 84907487955 scopus 로고    scopus 로고
    • Unprenylated RhoA contributes to IL- 1beta hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity
    • van der Burgh R, Pervolaraki K, Turkenburg M, Waterham HR, Frenkel J, Boes M (2014) Unprenylated RhoA contributes to IL- 1beta hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity. J Biol Chem 289(40): 27757–27765. doi:10.1074/jbc.M114.571810
    • (2014) J Biol Chem , vol.289 , Issue.40 , pp. 27757-27765
    • Van Der Burgh, R.1    Pervolaraki, K.2    Turkenburg, M.3    Waterham, H.R.4    Frenkel, J.5    Boes, M.6
  • 27
    • 84857115753 scopus 로고    scopus 로고
    • Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome
    • 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(1):249–251. doi: 10.1007/s00296-009-1322-8
    • (2012) Rheumatol Int , vol.32 , Issue.1 , pp. 249-251
    • Shendi, H.M.1    Walsh, D.2    Edgar, J.D.3
  • 29
    • 84892853502 scopus 로고    scopus 로고
    • A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab
    • 795027
    • Tsitsami E, Papadopoulou C, Speletas M (2013) A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab. Case Rep Rheumatol 2013:795027. doi:10.1155/2013/795027
    • (2013) Case Rep Rheumatol , pp. 2013
    • Tsitsami, E.1    Papadopoulou, C.2    Speletas, M.3
  • 30
    • 84896716262 scopus 로고    scopus 로고
    • Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome
    • Shendi HM, Devlin LA, Edgar JD (2014) Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. J Clin Rheumatol: Pract Rep Rheum Musculoskelet Dis 20(2):103–105. doi:10.1097/01.RHU.0000442576.41537.de
    • (2014) J Clin Rheumatol: Pract Rep Rheum Musculoskelet Dis , vol.20 , Issue.2 , pp. 103-105
    • Shendi, H.M.1    Devlin, L.A.2    Edgar, J.D.3
  • 34
    • 34748925781 scopus 로고    scopus 로고
    • Mevalonic aciduria cured by bone marrow transplantation
    • Arkwright PD, Abinun M, Cant AJ (2007) Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med 357(13): 1350. doi:10.1056/NEJMc072002
    • (2007) N Engl J Med , vol.357 , Issue.13 , pp. 1350
    • Arkwright, P.D.1    Abinun, M.2    Cant, A.J.3
  • 36
    • 84904023179 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency and IBD: Shared genetic background
    • Bianco AM, Girardelli M, Vozzi D, Crovella S, Kleiner G, Marcuzzi A (2014) Mevalonate kinase deficiency and IBD: shared genetic background. Gut 63(8):1367–1368. doi:10.1136/gutjnl-2013-306555
    • (2014) Gut , vol.63 , Issue.8 , pp. 1367-1368
    • Bianco, A.M.1    Girardelli, M.2    Vozzi, D.3    Crovella, S.4    Kleiner, G.5    Marcuzzi, A.6
  • 37
    • 84896723460 scopus 로고    scopus 로고
    • Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency
    • Parvaneh N, Ziaee V, Moradinejad MH, Touitou I (2014) Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency. J Clin Immunol 34(1):123–126. doi:10.1007/s10875-013-9955-5
    • (2014) J Clin Immunol , vol.34 , Issue.1 , pp. 123-126
    • Parvaneh, N.1    Ziaee, V.2    Moradinejad, M.H.3    Touitou, I.4
  • 38
    • 84962489411 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism
    • Schulert GS, Bove K, McMasters R, Campbell K, Leslie N, Grom AA (2014) Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism. Arthritis Care Res. doi:10.1002/acr.22527
    • (2014) Arthritis Care Res
    • Schulert, G.S.1    Bove, K.2    McMasters, R.3    Campbell, K.4    Leslie, N.5    Grom, A.A.6
  • 39
    • 84984692796 scopus 로고    scopus 로고
    • Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome
    • 936890
    • von Linstow M-L, Rosenfeldt V (2014) Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome. Case Rep Pediatr 2014:936890
    • (2014) Case Rep Pediatr , pp. 2014
    • Von Linstow, M.-L.1    Rosenfeldt, V.2
  • 42
    • 84887202197 scopus 로고    scopus 로고
    • Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis
    • Dai J, Chen M, Fu X, Yu Y, Shi Z, Yu C, Wang G, Tian H, Liu H, Zhang F (2013) Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis. J Dermatol Sci 72(3):320–322. doi:10.1016/j.jdermsci.2013.07.011
    • (2013) J Dermatol Sci , vol.72 , Issue.3 , pp. 320-322
    • Dai, J.1    Chen, M.2    Fu, X.3    Yu, Y.4    Shi, Z.5    Yu, C.6    Wang, G.7    Tian, H.8    Liu, H.9    Zhang, F.10
  • 43
    • 84879940077 scopus 로고    scopus 로고
    • Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis
    • Zhou Y, Liu J, Fu X, Yu Y, Shi B, Yu G, Shi Z, Wu W, Pan F, Tian H, Liu H, Zhang F (2013) Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis. Br J Dermatol 169(1):193–195. doi:10.1111/bjd.12224
    • (2013) Br J Dermatol , vol.169 , Issue.1 , pp. 193-195
    • Zhou, Y.1    Liu, J.2    Fu, X.3    Yu, Y.4    Shi, B.5    Yu, G.6    Shi, Z.7    Wu, W.8    Pan, F.9    Tian, H.10    Liu, H.11    Zhang, F.12
  • 44
    • 84917733043 scopus 로고    scopus 로고
    • A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis
    • Lu WS, Zheng XD, Yao XH, Zhang LF, Wang MQ, Jiang FX, Zhang SP, Hu B (2014) A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis. Mol Biol Rep 41(11):7229–7233. doi:10.1007/s11033-014-3609-4
    • (2014) Mol Biol Rep , vol.41 , Issue.11 , pp. 7229-7233
    • Lu, W.S.1    Zheng, X.D.2    Yao, X.H.3    Zhang, L.F.4    Wang, M.Q.5    Jiang, F.X.6    Zhang, S.P.7    Hu, B.8
  • 45
    • 85027953977 scopus 로고    scopus 로고
    • A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene
    • Zhou MS, Xie HF, Chen ML, Jian D, Liu FF, Chen X, Shen N, Si N, Li J (2014) A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene. Br J Dermatol 171(2):427–429. doi:10.1111/bjd.12947
    • (2014) Br J Dermatol , vol.171 , Issue.2 , pp. 427-429
    • Zhou, M.S.1    Xie, H.F.2    Chen, M.L.3    Jian, D.4    Liu, F.F.5    Chen, X.6    Shen, N.7    Si, N.8    Li, J.9
  • 46
    • 84907800939 scopus 로고    scopus 로고
    • Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP
    • Lu WS, Zheng XD, Yao XH, Zhang LF, Hu B, Lu YJ (2014) Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP. Int J Clin Exp Pathol 7(2): 728–732
    • (2014) Int J Clin Exp Pathol , vol.7 , Issue.2 , pp. 728-732
    • Lu, W.S.1    Zheng, X.D.2    Yao, X.H.3    Zhang, L.F.4    Hu, B.5    Lu, Y.J.6
  • 47
    • 84919477807 scopus 로고    scopus 로고
    • Splicing mutation in MVK is a cause of porokeratosis of Mibelli
    • Zeng K, Zhang QG, Li L, Duan Y, Liang YH (2014) Splicing mutation in MVK is a cause of porokeratosis of Mibelli. Arch Dermatol Res 306(8):749–755. doi:10.1007/s00403-014-1465-7
    • (2014) Arch Dermatol Res , vol.306 , Issue.8 , pp. 749-755
    • Zeng, K.1    Zhang, Q.G.2    Li, L.3    Duan, Y.4    Liang, Y.H.5
  • 48
    • 84900037619 scopus 로고    scopus 로고
    • Quantification of urinary mevalonic acid as a biomarker of HMG-CoA reductase activity by a novel translational LC-MS/MS method
    • Rodrigues AVM, Maggs JL, McWilliam SJ, Pirmohamed M, Coen M, Wilson ID, Park BK, Antoine DJ (2014) Quantification of urinary mevalonic acid as a biomarker of HMG-CoA reductase activity by a novel translational LC-MS/MS method. Bioanalysis 6(7): 919–933
    • (2014) Bioanalysis , vol.6 , Issue.7 , pp. 919-933
    • Rodrigues, A.1    Maggs, J.L.2    McWilliam, S.J.3    Pirmohamed, M.4    Coen, M.5    Wilson, I.D.6    Park, B.K.7    Antoine, D.J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.