-
3
-
-
66649121678
-
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
-
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
-
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
-
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
-
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
-
-
33750965780
-
A role for geranylgeranylation in interleukin-1beta secretion
-
Mandey SH, Kuijk LM, Frenkel J, Waterham HR: A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 2006, 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
-
9
-
-
40349108709
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
21
-
-
4444231190
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|