메뉴 건너뛰기




Volumn 12, Issue 2, 2010, Pages 101-107

Hyperimmunoglobulin D syndrome in childhood

Author keywords

Anakinra; HIDS; Immunoglobulin D; Mevalonate kinase deficiency

Indexed keywords

ATORVASTATIN; AZATHIOPRINE; COLCHICINE; CORTICOSTEROID; CYCLOSPORIN; DAPSONE; ETANERCEPT; INFLIXIMAB; MEVALONATE KINASE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN; THALIDOMIDE;

EID: 77953478561     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-010-0086-1     Document Type: Review
Times cited : (42)

References (39)
  • 3
    • 66649121678 scopus 로고    scopus 로고
    • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    • Aksentijevich I, Masters SL, Ferguson PJ, et al.: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009, 360:2426-2437.
    • (2009) N Engl J Med , vol.360 , pp. 2426-2437
    • Aksentijevich, I.1    Masters, S.L.2    Ferguson, P.J.3
  • 4
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
    • This excellent review on the pathogenesis of the autoinflammatory diseases focuses on the molecular pathways that lead to inflammation
    • Masters SL, Simon A, Aksentijevich I, Kastner DL: Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009, 27:621-668. This excellent review on the pathogenesis of the autoinflammatory diseases focuses on the molecular pathways that lead to inflammation.
    • (2009) Annu Rev Immunol , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3    Kastner, D.L.4
  • 5
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-Igd and periodic fever syndrome
    • International Hyper-IgD Study Group
    • Drenth JP, Cuisset L, Grateau G, et al.: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999, 22:178-181.
    • (1999) Nat Genet , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3
  • 6
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten SM, Kuis W, Duran M, et al.: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999, 22:175-177.
    • (1999) Nat Genet , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3
  • 7
    • 2042501706 scopus 로고    scopus 로고
    • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • Simon A, Drewe E, van der Meer JW, et al.: Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004, 75:476-478.
    • (2004) Clin Pharmacol Ther , vol.75 , pp. 476-478
    • Simon, A.1    Drewe, E.2    Van Der Meer, J.W.3
  • 8
  • 9
    • 40349108709 scopus 로고    scopus 로고
    • Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1
    • This elegant in vitro study further elucidated the importance of isoprenoids in the activation of caspase-1 and interleukin-1β secretion
    • Kuijk LM, Mandey SH, Schellens I, et al.: Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 2008, 45:2158-2165. This elegant in vitro study further elucidated the importance of isoprenoids in the activation of caspase-1 and interleukin-1β secretion.
    • (2008) Mol Immunol , vol.45 , pp. 2158-2165
    • Kuijk, L.M.1    Mandey, S.H.2    Schellens, I.3
  • 10
    • 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, et al.: HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 2008, 112:3563-3573.
    • (2008) Blood , vol.112 , pp. 3563-3573
    • Kuijk, L.M.1    Beekman, J.M.2    Koster, J.3
  • 11
    • 70849083191 scopus 로고    scopus 로고
    • Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: A putative link between mevalonate kinase deficiency and inflammation
    • Normand S, Massonnet B, Delwail A, et al.: Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation. Eur Cytokine Netw 2009, 20:101-107.
    • (2009) Eur Cytokine Netw , vol.20 , pp. 101-107
    • Normand, S.1    Massonnet, B.2    Delwail, A.3
  • 12
    • 33947277965 scopus 로고    scopus 로고
    • Defective apoptosis of peripheral-blood lymphocytes in hyper-Igd and periodic fever syndrome
    • Bodar EJ, van der Hilst JC, van Heerde W, et al.: Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome. Blood 2007, 109:2416-2418.
    • (2007) Blood , vol.109 , pp. 2416-2418
    • Bodar, E.J.1    Van Der Hilst, J.C.2    Van Heerde, W.3
  • 13
    • 0021287627 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
    • van der Meer JWM, Vossen JM, Radl J, et al.: Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984, 1:1087-1090.
    • (1984) Lancet , vol.1 , pp. 1087-1090
    • Van Der Meer, J.W.M.1    Vossen, J.M.2    Radl, J.3
  • 14
    • 58149195381 scopus 로고    scopus 로고
    • Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    • The largest study of HIDS patients so far described the clinical characteristics and follow-up of 103 patients. It also showed that HIDS significantly impairs the quality of life
    • van der Hilst JC, Bodar EJ, Barron KS, et al.: Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008, 87:301-310. The largest study of HIDS patients so far described the clinical characteristics and follow-up of 103 patients. It also showed that HIDS significantly impairs the quality of life.
    • (2008) Medicine (Baltimore) , vol.87 , pp. 301-310
    • Van Der Hilst, J.C.1    Bodar, E.J.2    Barron, K.S.3
  • 15
    • 68849116499 scopus 로고    scopus 로고
    • A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
    • Steichen O, van der Hilst J, Simon A, et al.: A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 2009, 36:1677-1681.
    • (2009) J Rheumatol , vol.36 , pp. 1677-1681
    • Steichen, O.1    Van Der Hilst, J.2    Simon, A.3
  • 16
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients
    • International Hyper-IgD Study Group
    • Drenth JP, Haagsma CJ, van der Meer JW: Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994, 73:133-144.
    • (1994) Medicine (Baltimore) , vol.73 , pp. 133-144
    • Drenth, J.P.1    Haagsma, C.J.2    Van Der Meer, J.W.3
  • 17
    • 34249830128 scopus 로고    scopus 로고
    • Autoinflammatory gene mutations in behcet's disease
    • Kone-Paut I, Sanchez E, Le QA, et al.: Autoinflammatory gene mutations in Behcet's disease. Ann Rheum Dis 2007, 66:832-834.
    • (2007) Ann Rheum Dis , vol.66 , pp. 832-834
    • Kone-Paut, I.1    Sanchez, E.2    Le, Q.A.3
  • 18
    • 69349102906 scopus 로고    scopus 로고
    • Nummular keratopathy in a patient with hyper-Igd syndrome
    • Kraus CL, Culican SM: Nummular keratopathy in a patient with Hyper-IgD Syndrome. Pediatr Rheumatol Online J 2009, 7:14.
    • (2009) Pediatr Rheumatol Online J , vol.7 , pp. 14
    • Kraus, C.L.1    Culican, S.M.2
  • 19
  • 21
    • 4444231190 scopus 로고    scopus 로고
    • First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome
    • Obici L, Manno C, Muda AO, et al.: First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2004, 50:2966-2969.
    • (2004) Arthritis Rheum , vol.50 , pp. 2966-2969
    • Obici, L.1    Manno, C.2    Muda, A.O.3
  • 22
    • 33745052318 scopus 로고    scopus 로고
    • AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases
    • Lachmann HJ, Goodman HJ, Andrews PA, et al.: AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum 2006, 54:2010-2014.
    • (2006) Arthritis Rheum , vol.54 , pp. 2010-2014
    • Lachmann, H.J.1    Goodman, H.J.2    Andrews, P.A.3
  • 23
    • 22144481340 scopus 로고    scopus 로고
    • Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in hyper-IgD syndrome
    • van der Hilst JC, Drenth JP, Bodar EJ, et al.: Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. Amyloid 2005, 12:115-119.
    • (2005) Amyloid , vol.12 , pp. 115-119
    • Van Der Hilst, J.C.1    Drenth, J.P.2    Bodar, E.J.3
  • 24
    • 0034672705 scopus 로고    scopus 로고
    • Biochemical and genetic aspects of mevalonate kinase and its deficiency
    • Houten SM, Wanders RJ, Waterham HR: Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000, 1529:19-32.
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 19-32
    • Houten, S.M.1    Wanders, R.J.2    Waterham, H.R.3
  • 25
    • 0035055571 scopus 로고    scopus 로고
    • Molecular analysis of MVK mutations and enzymatic activity in hyper-Igd and periodic fever syndrome
    • Cuisset L, Drenth JP, Simon A, et al.: Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001, 9:260-266.
    • (2001) Eur J Hum Genet , vol.9 , pp. 260-266
    • Cuisset, L.1    Drenth, J.P.2    Simon, A.3
  • 26
    • 33644867557 scopus 로고    scopus 로고
    • Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes
    • Simon A, van der Meer JW, Vesely R, et al.: Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford) 2006, 45:269-273.
    • (2006) Rheumatology (Oxford) , vol.45 , pp. 269-273
    • Simon, A.1    Van Der Meer, J.W.2    Vesely, R.3
  • 27
    • 33750341493 scopus 로고    scopus 로고
    • A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients
    • Federici L, Rittore-Domingo C, Kone-Paut I, et al.: A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006, 65:1427-1432.
    • (2006) Ann Rheum Dis , vol.65 , pp. 1427-1432
    • Federici, L.1    Rittore-Domingo, C.2    Kone-Paut, I.3
  • 28
    • 0034917990 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
    • Di Rocco M, Caruso U, Waterham HR, et al.: Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D. J Inherit Metab Dis 2001, 24:411-412.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 411-412
    • Di Rocco, M.1    Caruso, U.2    Waterham, H.R.3
  • 29
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • Dode C, Andre M, Bienvenu T, et al.: The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002, 46:2181-2188.
    • (2002) Arthritis Rheum , vol.46 , pp. 2181-2188
    • Dode, C.1    Andre, M.2    Bienvenu, T.3
  • 30
    • 0035666961 scopus 로고    scopus 로고
    • Familial mediterranean fever: Association of elevated Igd plasma levels with specific MEFV mutations
    • Medlej-Hashim M, Petit I, Adib S, et al.: Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations. Eur J Hum Genet 2001, 9:849-854.
    • (2001) Eur J Hum Genet , vol.9 , pp. 849-854
    • Medlej-Hashim, M.1    Petit, I.2    Adib, S.3
  • 31
    • 34848837371 scopus 로고    scopus 로고
    • Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper Igd syndrome
    • This study showed that serum IgD values do not predict which patients with a clinical suspicion of HIDS actually have mutations in MVK
    • Ammouri W, Cuisset L, Rouaghe S, et al.: Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 2007, 46:1597-600. This study showed that serum IgD values do not predict which patients with a clinical suspicion of HIDS actually have mutations in MVK.
    • (2007) Rheumatology (Oxford) , vol.46 , pp. 1597-1600
    • Ammouri, W.1    Cuisset, L.2    Rouaghe, S.3
  • 32
    • 0027016250 scopus 로고
    • Lives in a balance: Perceived family functioning and the psychosocial adjustment of adolescent cancer survivors
    • Rait DS, Ostroff JS, Smith K, et al.: Lives in a balance: perceived family functioning and the psychosocial adjustment of adolescent cancer survivors. Fam Process 1992, 31:383-397.
    • (1992) Fam Process , vol.31 , pp. 383-397
    • Rait, D.S.1    Ostroff, J.S.2    Smith, K.3
  • 33
    • 15544368919 scopus 로고    scopus 로고
    • The course of life of survivors of childhood cancer
    • Stam H, Grootenhuis MA, Last BF: The course of life of survivors of childhood cancer. Psychooncology 2005, 14:227-238.
    • (2005) Psychooncology , vol.14 , pp. 227-238
    • Stam, H.1    Grootenhuis, M.A.2    Last, B.F.3
  • 34
    • 33645352625 scopus 로고    scopus 로고
    • Young adult patients with a history of pediatric disease: Impact on course of life and transition into adulthood
    • Stam H, Hartman EE, Deurloo JA, et al.: Young adult patients with a history of pediatric disease: impact on course of life and transition into adulthood. J Adolesc Health 2006, 39:4-13.
    • (2006) J Adolesc Health , vol.39 , pp. 4-13
    • Stam, H.1    Hartman, E.E.2    Deurloo, J.A.3
  • 35
    • 0034888835 scopus 로고    scopus 로고
    • Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-Igd and periodic fever syndrome: A randomized, double-blind, placebo-controlled trial
    • Drenth JP, Vonk AG, Simon A, et al.: Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther 2001, 298:1221-1226.
    • (2001) J Pharmacol Exp Ther , vol.298 , pp. 1221-1226
    • Drenth, J.P.1    Vonk, A.G.2    Simon, A.3
  • 36
    • 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, et al.: Effect of etanercept and anakinra on inflammatory attacks in the Hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 2005, 63:24-28.
    • (2005) Neth J Med , vol.63 , pp. 24-28
    • Bodar, E.J.1    Van Der Hilst, J.C.2    Drenth, J.P.3
  • 37
    • 0141453408 scopus 로고    scopus 로고
    • Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    • Takada K, Aksentijevich I, Mahadevan V, et al.: Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003, 48:2645-2651.
    • (2003) Arthritis Rheum , vol.48 , pp. 2645-2651
    • Takada, K.1    Aksentijevich, I.2    Mahadevan, V.3
  • 38
    • 33947112776 scopus 로고    scopus 로고
    • Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
    • Nevyjel M, Pontillo A, Calligaris L, et al.: Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics 2007, 119:e523-e527.
    • (2007) Pediatrics , vol.119
    • Nevyjel, M.1    Pontillo, A.2    Calligaris, L.3
  • 39
    • 33750489045 scopus 로고    scopus 로고
    • Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome
    • Rigante D, Ansuini V, Bertoni B, et al.: Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol Int 2006, 27:97-100.
    • (2006) Rheumatol Int , vol.27 , pp. 97-100
    • Rigante, D.1    Ansuini, V.2    Bertoni, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.