-
1
-
-
33645458522
-
Familial Mediterranean fever and the other autoinflammatory syndromes: Evaluation of the patient with recurrent fever
-
Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol. 2006;18:108-117
-
(2006)
Curr Opin Rheumatol
, vol.18
, pp. 108-117
-
-
Samuels, J.1
Ozen, S.2
-
2
-
-
12344314454
-
Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study
-
Tunca M, Akar S, Onen F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84:1-11
-
(2005)
Medicine (Baltimore)
, vol.84
, pp. 1-11
-
-
Tunca, M.1
Akar, S.2
Onen, F.3
-
3
-
-
0030745449
-
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997; 90:797-807
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997; 90:797-807
-
-
-
-
4
-
-
16944365196
-
-
A candidate gene for familial Mediterranean fever. The French FMF Consortium
-
A candidate gene for familial Mediterranean fever. The French FMF Consortium. Nat Genet. 1997;17:25-31
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
5
-
-
2342434551
-
Identifying mutations in autoinflammatory diseases: Towards novel genetic tests and therapies
-
Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies. Am J Pharmacogenet. 2004;4:109-118
-
(2004)
Am J Pharmacogenet
, vol.4
, pp. 109-118
-
-
Touitou, I.1
Notarnicola, C.2
Grandemange, S.3
-
6
-
-
0022570984
-
Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
-
Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med. 1986;314:1001-1005
-
(1986)
N Engl J Med
, vol.314
, pp. 1001-1005
-
-
Zemer, D.1
Pras, M.2
Sohar, E.3
Modan, M.4
Cabili, S.5
Gafni, J.6
-
7
-
-
34250623231
-
Treatment of familial Mediterranean fever with anakinra
-
Belkhir R, Moulonguet-Doleris L, Hachulla E, Prinseau J, Baglin A, Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med. 2007;146:825-826
-
(2007)
Ann Intern Med
, vol.146
, pp. 825-826
-
-
Belkhir, R.1
Moulonguet-Doleris, L.2
Hachulla, E.3
Prinseau, J.4
Baglin, A.5
Hanslik, T.6
-
8
-
-
33750738072
-
Treatment options in colchicine resistant familial Mediterranean fever patients: Thalidomide and etanercept as adjunctive agents
-
Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006:24(5 suppl 42):S99-S103
-
(2006)
Clin Exp Rheumatol
, vol.24
, Issue.5 SUPPL. 42
-
-
Seyahi, E.1
Ozdogan, H.2
Celik, S.3
Ugurlu, S.4
Yazici, H.5
-
9
-
-
0020428767
-
Familial Hibernian fever
-
Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BHB, Toghill PJ. Familial Hibernian fever. Q J Med. 1982;204:469-480
-
(1982)
Q J Med
, vol.204
, pp. 469-480
-
-
Williamson, L.M.1
Hull, D.2
Mehta, R.3
Reeves, W.G.4
Robinson, B.H.B.5
Toghill, P.J.6
-
10
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 KDA TNF receptor, TNFRI, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 KDA TNF receptor, TNFRI, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133-144
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
-
11
-
-
3843097190
-
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): Definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic disease
-
Masson C, Simon V, Hoppe E, Insalaco P, Sisse I, Audron M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic disease. Joint Bone Spine. 2004;71:284-290
-
(2004)
Joint Bone Spine
, vol.71
, pp. 284-290
-
-
Masson, C.1
Simon, V.2
Hoppe, E.3
Insalaco, P.4
Sisse, I.5
Audron, M.6
-
12
-
-
0038651985
-
-
Drewe E, Lanyon PC, Powell RJ. Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome. Comment on the articles by Hill et al and Dode et al. Arthritis Rheum. 2003;48:1768-1769
-
Drewe E, Lanyon PC, Powell RJ. Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome. Comment on the articles by Hill et al and Dode et al. Arthritis Rheum. 2003;48:1768-1769
-
-
-
-
13
-
-
43949128071
-
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
-
Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516-1520
-
(2008)
Arthritis Rheum
, vol.58
, pp. 1516-1520
-
-
Gattorno, M.1
Pelagatti, M.A.2
Meini, A.3
-
14
-
-
0021287627
-
Hyperimmunoglobulin D and periodic fever: A new syndrome
-
Van der Meer JW, Vassen JM, Radi J, et al. Hyperimmunoglobulin D and periodic fever: a new syndrome. Lancet. 1984;1: 1087-1090
-
(1984)
Lancet
, vol.1
, pp. 1087-1090
-
-
Van der Meer, J.W.1
Vassen, J.M.2
Radi, J.3
-
15
-
-
0028026953
-
Hyperimmunoglobulin 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. Hyperimmunoglobulin D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD study group. Medicine. 1994;73:133-144
-
(1994)
Medicine
, vol.73
, pp. 133-144
-
-
Drenth, J.P.1
Haagsma, C.J.2
Van der Meer, J.W.3
-
16
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
-
Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet. 1999;22:178-181
-
(1999)
Nat Genet
, vol.22
, pp. 178-181
-
-
Drenth, J.P.1
Cuisset, L.2
Grateau, G.3
-
17
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinemia D and periodic fever syndrome
-
Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinemia 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
-
18
-
-
2042501706
-
Simvastin treatment for inflammatory attacks of the hyperimmunoglobulin D and periodic fever syndrome
-
Simon A, Drewe E, Van der Meer JW, et al. Simvastin treatment for inflammatory attacks of the hyperimmunoglobulin D and periodic fever syndrome. Clin Pharmacol Ther. 2004;75:476
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476
-
-
Simon, A.1
Drewe, E.2
Van der Meer, J.W.3
-
19
-
-
40349112838
-
The spectrum of autoinflammatory diseases: Recent bench to bedside observations
-
Ryan JG, Goldbach-Mansky R. The spectrum of autoinflammatory diseases: recent bench to bedside observations. Curr Opin Rheumatol. 2008;20:66-74
-
(2008)
Curr Opin Rheumatol
, vol.20
, pp. 66-74
-
-
Ryan, J.G.1
Goldbach-Mansky, R.2
-
20
-
-
23844552119
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
-
Bodar EJ, Hilst JC, Drenth JP, Van der Meer JW, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63:260-264
-
(2005)
Neth J Med
, vol.63
, pp. 260-264
-
-
Bodar, E.J.1
Hilst, J.C.2
Drenth, J.P.3
Van der Meer, J.W.4
Simon, A.5
-
21
-
-
0036302235
-
Chronic infantile neurologic cutaneous and articular syndrome is caused by mutations in CIASI, a gene highly expressed in poly-morphonuclear cells and chondrocytes
-
Feldmann J, Prieur A-M, Quartier P, et al. Chronic infantile neurologic cutaneous and articular syndrome is caused by mutations in CIASI, a gene highly expressed in poly-morphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71:198-203
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.-M.2
Quartier, P.3
-
22
-
-
0036899758
-
De novo CIASI mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multi-system inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
-
Aksentijevich I, Nowak M, Mallak M, et al. De novo CIASI mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multi-system inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46:3340-3351
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3351
-
-
Aksentijevich, I.1
Nowak, M.2
Mallak, M.3
-
23
-
-
0033358561
-
Genetic linkage of the Muckle-Wells syndrome to chromosome1q44
-
Cuisset L, Drenth JP, Berthelor J-M, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome1q44. Am J Hum Genet. 1999;65:1054-1059
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1054-1059
-
-
Cuisset, L.1
Drenth, J.P.2
Berthelor, J.-M.3
-
24
-
-
0033940611
-
Identification of a locus on chromosome 1q44 for familial cold urticaria
-
Hoffman HM, Wright FA, Broide DH, et al. Identification of a locus on chromosome 1q44 for familial cold urticaria. Am J Hum Genet. 2000;66:1693-1698
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1693-1698
-
-
Hoffman, H.M.1
Wright, F.A.2
Broide, D.H.3
-
25
-
-
0001380014
-
A case of cold urticaria with an unusual family history
-
Kile RL, Rusk HA. A case of cold urticaria with an unusual family history. JAMA. 1940;114:1067-1068
-
(1940)
JAMA
, vol.114
, pp. 1067-1068
-
-
Kile, R.L.1
Rusk, H.A.2
-
26
-
-
73649189052
-
Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
-
Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235-248
-
(1962)
Q J Med
, vol.31
, pp. 235-248
-
-
Muckle, T.J.1
Wells, M.2
-
27
-
-
0020631580
-
Neonatal onset multisystem inflammatory disease (NOMID)
-
Hassink SG, Goldsmith DP. Neonatal onset multisystem inflammatory disease (NOMID). Arthritis Rheum. 1983; 26: 668-673
-
(1983)
Arthritis Rheum
, vol.26
, pp. 668-673
-
-
Hassink, S.G.1
Goldsmith, D.P.2
-
28
-
-
0021071520
-
Nosologic aspects of systemic forms of very early onset juvenile arthritis. Apropos of 17 cases
-
Prieur AM, Griscelli C. Nosologic aspects of systemic forms of very early onset juvenile arthritis. Apropos of 17 cases. Ann Pediatr (Paris). 1983;30:565
-
(1983)
Ann Pediatr (Paris)
, vol.30
, pp. 565
-
-
Prieur, A.M.1
Griscelli, C.2
-
29
-
-
34247252063
-
The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model
-
Askentijevich I, Putnam CB, Remmers EF, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273-1285
-
(2007)
Arthritis Rheum
, vol.56
, pp. 1273-1285
-
-
Askentijevich, I.1
Putnam, C.B.2
Remmers, E.F.3
-
30
-
-
76149122072
-
Neonatal onset multisystem inflammatory disease responsive to interleukin 1 beta inhibition
-
Goldbach-Mansky R, Dailey NJ, Cana SW, et al. Neonatal onset multisystem inflammatory disease responsive to interleukin 1 beta inhibition. N Engl J Med. 2006;24:85-89
-
(2006)
N Engl J Med
, vol.24
, pp. 85-89
-
-
Goldbach-Mansky, R.1
Dailey, N.J.2
Cana, S.W.3
-
31
-
-
0023230159
-
Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
-
Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987;110:43-46
-
(1987)
J Pediatr
, vol.110
, pp. 43-46
-
-
Marshall, G.S.1
Edwards, K.M.2
Butler, J.3
Lawton, A.R.4
-
33
-
-
0033504364
-
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome
-
Padeh S, Brezniak N, Zemer D, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr. 1999;135:98-101
-
(1999)
J Pediatr
, vol.135
, pp. 98-101
-
-
Padeh, S.1
Brezniak, N.2
Zemer, D.3
-
34
-
-
0042744756
-
MEFV gene analysis in PFAPA
-
Cazeneuve C, Geneviève D, Amselem S, Hentgen V, Hau I, Reinert P. MEFV gene analysis in PFAPA. J Pediatr. 2003;142: 140-141
-
(2003)
J Pediatr
, vol.142
, pp. 140-141
-
-
Cazeneuve, C.1
Geneviève, D.2
Amselem, S.3
Hentgen, V.4
Hau, I.5
Reinert, P.6
-
35
-
-
33747877779
-
CARD15/NOD2 mutations are not related to abdominal PFAPA
-
Maschio M, Oretti C, Ventura G, et al. CARD15/NOD2 mutations are not related to abdominal PFAPA. J Pediatr. 2006; 149:427
-
(2006)
J Pediatr
, vol.149
, pp. 427
-
-
Maschio, M.1
Oretti, C.2
Ventura, G.3
-
36
-
-
0026557969
-
Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis, and cervical adenitis
-
Feder HM Jr. Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis, and cervical adenitis. Pediatr Infect Dis J. 1992;11:318-321
-
(1992)
Pediatr Infect Dis J
, vol.11
, pp. 318-321
-
-
Feder Jr., H.M.1
-
37
-
-
33749564027
-
PFAPA syndrome: New clinical aspects disclosed
-
Tasher D, Somkh E, Dalal I, et al. PFAPA syndrome: new clinical aspects disclosed. Arch Dis Child. 2006;91:981-984
-
(2006)
Arch Dis Child
, vol.91
, pp. 981-984
-
-
Tasher, D.1
Somkh, E.2
Dalal, I.3
-
38
-
-
34548050230
-
A randomized controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome
-
Renko M, Salo E, Putt-Laurila A, et al. A randomized controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J Pediatr. 2007;151: 289-292
-
(2007)
J Pediatr
, vol.151
, pp. 289-292
-
-
Renko, M.1
Salo, E.2
Putt-Laurila, A.3
-
40
-
-
45349095718
-
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
-
Gattorno M, Sormani P, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008;55:1823-1832
-
(2008)
Arthritis Rheum
, vol.55
, pp. 1823-1832
-
-
Gattorno, M.1
Sormani, P.2
D'Osualdo, A.3
|