-
1
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133-44.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.M.4
Ogunkolade, B.W.5
Centola, M.6
-
2
-
-
33744972617
-
The systemic autoinflammatory diseases: Inborn errors of the innate immune system
-
Brydges S, Kastner DL. The systemic autoinflammatory diseases: inborn errors of the innate immune system. Curr Top Microbiol Immunol. 2006; 305:127-60.
-
(2006)
Curr Top Microbiol Immunol
, vol.305
, pp. 127-160
-
-
Brydges, S.1
Kastner, D.L.2
-
3
-
-
0037216780
-
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
-
Hull KM, Shohman N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol. 2003;15:61-9.
-
(2003)
Curr Opin Rheumatol
, vol.15
, pp. 61-69
-
-
Hull, K.M.1
Shohman, N.2
Chae, J.J.3
Aksentijevich, I.4
Kastner, D.L.5
-
5
-
-
0031814513
-
Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
-
Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998;77:268-97.
-
(1998)
Medicine (Baltimore)
, vol.77
, pp. 268-297
-
-
Samuels, J.1
Aksentijevich, I.2
Torosyan, Y.3
Centola, M.4
Deng, Z.5
Sood, R.6
-
6
-
-
0032574208
-
Familial Mediterranean fever
-
Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet. 1998;351:659-64.
-
(1998)
Lancet
, vol.351
, pp. 659-664
-
-
Ben-Chetrit, E.1
Levy, M.2
-
7
-
-
0037262046
-
Familial Mediterranean fever is no longer a rare disease in Italy
-
La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet. 2003;11:50-6.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 50-56
-
-
La Regina, M.1
Nucera, G.2
Diaco, M.3
Procopio, A.4
Gasbarrini, G.5
Notarnicola, C.6
-
8
-
-
0037405561
-
Familial Mediterranean fever associated pyrin mutations in Greece
-
Konstantopoulos K, Kanta A, Deltas C, Atamian V, Mavrogianni D, Tzioufas AG, et al. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis. 2003;62:479-81.
-
(2003)
Ann Rheum Dis
, vol.62
, pp. 479-481
-
-
Konstantopoulos, K.1
Kanta, A.2
Deltas, C.3
Atamian, V.4
Mavrogianni, D.5
Tzioufas, A.G.6
-
9
-
-
2342558725
-
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination hot-spot at the MEFV locus
-
Aldea A, Calafell F, Arostegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination «hot-spot» at the MEFV locus. Hum Mut. 2004;23:399.
-
(2004)
Hum Mut
, vol.23
, pp. 399
-
-
Aldea, A.1
Calafell, F.2
Arostegui, J.I.3
Lao, O.4
Rius, J.5
Plaza, S.6
-
10
-
-
2442504883
-
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever
-
Kotone-Miyahara Y, Takaori-Kondo A, Fukunaga K, Goto M, Hayashino Y, Miki M, et al. E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. Int J Hematol. 2004;79:235-7.
-
(2004)
Int J Hematol
, vol.79
, pp. 235-237
-
-
Kotone-Miyahara, Y.1
Takaori-Kondo, A.2
Fukunaga, K.3
Goto, M.4
Hayashino, Y.5
Miki, M.6
-
11
-
-
85030499408
-
-
Kastner DL, Brydges S, Hull KM. Periodic fever syndromes. En: Ochs HD, Edvard Smith CI, Puck JM, editors. Primary immunodeficiency diseases. A molecular and genetic approach. 2nd ed. New York: Oxford University Press; 2007. p. 367-89.
-
Kastner DL, Brydges S, Hull KM. Periodic fever syndromes. En: Ochs HD, Edvard Smith CI, Puck JM, editors. Primary immunodeficiency diseases. A molecular and genetic approach. 2nd ed. New York: Oxford University Press; 2007. p. 367-89.
-
-
-
-
12
-
-
0035479996
-
Genetically determined recurrent fevers
-
Delpech M, Grateau G. Genetically determined recurrent fevers. Curr Opin Immunol. 2001;13:539-42.
-
(2001)
Curr Opin Immunol
, vol.13
, pp. 539-542
-
-
Delpech, M.1
Grateau, G.2
-
13
-
-
0031983713
-
Clinical differences between North African and Iraqi Jews with familial Mediterranean fever
-
Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet. 1998;75:216-9.
-
(1998)
Am J Med Genet
, vol.75
, pp. 216-219
-
-
Pras, E.1
Livneh, A.2
Balow Jr, J.E.3
Pras, E.4
Kastner, D.L.5
Pras, M.6
-
14
-
-
0031058550
-
Vasculitis in familial Mediterranean fever
-
Ozdogan H, Arisoy N, Kasapcapur O, Sever L, Caliskan S, Tuzuner N, et al. Vasculitis in familial Mediterranean fever. J Rheumatol. 1997;24:323-7.
-
(1997)
J Rheumatol
, vol.24
, pp. 323-327
-
-
Ozdogan, H.1
Arisoy, N.2
Kasapcapur, O.3
Sever, L.4
Caliskan, S.5
Tuzuner, N.6
-
15
-
-
0345130008
-
Familial Mediterranean fever: Renal involvement by diseases other than amyloid
-
Tekin M, Yalçinkaya F, Tumer N, Cakar N, Kocak H, Ozkaya N, et al. Familial Mediterranean fever: renal involvement by diseases other than amyloid. Nephrol Dial Transplant. 1999;14:475-9.
-
(1999)
Nephrol Dial Transplant
, vol.14
, pp. 475-479
-
-
Tekin, M.1
Yalçinkaya, F.2
Tumer, N.3
Cakar, N.4
Kocak, H.5
Ozkaya, N.6
-
16
-
-
0030909636
-
Familial Mediterranen fever and polyarteritis nodosa: Experience of five pediatric cases. A causal relationship or coincidence?
-
Tinaztepe K, Gucer S, Bakkaloglu A, Tinaztepe B. Familial Mediterranen fever and polyarteritis nodosa: experience of five pediatric cases. A causal relationship or coincidence? Eur J Pediatr. 1997;156:505-6.
-
(1997)
Eur J Pediatr
, vol.156
, pp. 505-506
-
-
Tinaztepe, K.1
Gucer, S.2
Bakkaloglu, A.3
Tinaztepe, B.4
-
17
-
-
12344314454
-
Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study
-
Turkish FMF study group
-
Turkish FMF study group. 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
-
-
-
18
-
-
17844399024
-
Familial Mediterranean fever in the post-genomic era: How an ancient disease is providing new insights into inflammatory pathways
-
Schaner PE, Gumucio DL. Familial Mediterranean fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways. Curr Drug Targets Inflamm Allergy. 2005;4:67-76.
-
(2005)
Curr Drug Targets Inflamm Allergy
, vol.4
, pp. 67-76
-
-
Schaner, P.E.1
Gumucio, D.L.2
-
19
-
-
33744762729
-
Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
-
Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology. 2006;45:746-50.
-
(2006)
Rheumatology
, vol.45
, pp. 746-750
-
-
Lachmann, H.J.1
Sengul, B.2
Yavuzsen, T.U.3
Booth, D.R.4
Booth, S.E.5
Bybee, A.6
-
20
-
-
0034088778
-
The genetics of the amyloidoses
-
Buxbaum JN, Tagoe CE. The genetics of the amyloidoses. Annu Rev Med. 2000;51:543-69.
-
(2000)
Annu Rev Med
, vol.51
, pp. 543-569
-
-
Buxbaum, J.N.1
Tagoe, C.E.2
-
22
-
-
0037388591
-
The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
-
Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003;48:1149-55.
-
(2003)
Arthritis Rheum
, vol.48
, pp. 1149-1155
-
-
Gershoni-Baruch, R.1
Brik, R.2
Zacks, N.3
Shinawi, M.4
Lidar, M.5
Livneh, A.6
-
23
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
The International FMF Consortium
-
The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797-807.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
24
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FMF Consortium
-
The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25-31.
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
25
-
-
4143125654
-
INFEVERS: An evolving mutation database for auto-inflammatory syndromes
-
Touitou I, Lesage S, McDermott MF, Cuisset L, Hoffman H, Dode C, et al. INFEVERS: an evolving mutation database for auto-inflammatory syndromes. Hum Mut. 2004;24:194-8.
-
(2004)
Hum Mut
, vol.24
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.F.3
Cuisset, L.4
Hoffman, H.5
Dode, C.6
-
26
-
-
7344255810
-
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
-
Bernot A, Da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet. 1998;7:1317-25.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1317-1325
-
-
Bernot, A.1
Da Silva, C.2
Petit, J.L.3
Cruaud, C.4
Caloustian, C.5
Castet, V.6
-
27
-
-
18244429610
-
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
-
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999;64:949-62.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 949-962
-
-
Aksentijevich, I.1
Torosyan, Y.2
Samuels, J.3
Centola, M.4
Pras, E.5
Chae, J.J.6
-
28
-
-
0343674694
-
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
-
Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet. 2000; 92:241-6.
-
(2000)
Am J Med Genet
, vol.92
, pp. 241-246
-
-
Dode, C.1
Pecheux, C.2
Cazeneuve, C.3
Cattan, D.4
Dervichian, M.5
Goossens, M.6
-
29
-
-
0033362158
-
MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - genetic and therapeutic implications
-
Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - genetic and therapeutic implications. Am J Hum Genet. 1999;65:88-97.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 88-97
-
-
Cazeneuve, C.1
Sarkisian, T.2
Pecheux, C.3
Dervichian, M.4
Nedelec, B.5
Reinert, P.6
-
30
-
-
31344435102
-
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
-
Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, et al. Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. CR Biologies. 2006;329:71-4.
-
(2006)
CR Biologies
, vol.329
, pp. 71-74
-
-
Belmahi, L.1
Sefiani, A.2
Fouveau, C.3
Feingold, J.4
Delpech, M.5
Grateau, G.6
-
31
-
-
0034031649
-
The genetic basis of autosomal dominant familial Mediterranean fever
-
Booth DR, Gilmore JD, Lachmann HJ, Booth SE, Bybee A, Soyturk M, et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q J Med. 2000;93:217-21.
-
(2000)
Q J Med
, vol.93
, pp. 217-221
-
-
Booth, D.R.1
Gilmore, J.D.2
Lachmann, H.J.3
Booth, S.E.4
Bybee, A.5
Soyturk, M.6
-
32
-
-
0942287854
-
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
-
Aldea A, Campistol JM, Aróstegui JI, Rius J, Maso M, Vives J, et al. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Am J Med Genet. 2004;124A:67-73.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 67-73
-
-
Aldea, A.1
Campistol, J.M.2
Aróstegui, J.I.3
Rius, J.4
Maso, M.5
Vives, J.6
-
33
-
-
0034658465
-
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
-
Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood. 2000;95:3223-31.
-
(2000)
Blood
, vol.95
, pp. 3223-3231
-
-
Centola, M.1
Wood, G.2
Frucht, D.M.3
Galon, J.4
Aringer, M.5
Farrell, C.6
-
34
-
-
0034662176
-
Expresión of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblasts cultures
-
Matzner Y, Abedat S, Shapiro E, Eisenberg S, Bar-Gil-Shitrit A, Stepensky P, et al. Expresión of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblasts cultures. Blood. 2000;96:727-31.
-
(2000)
Blood
, vol.96
, pp. 727-731
-
-
Matzner, Y.1
Abedat, S.2
Shapiro, E.3
Eisenberg, S.4
Bar-Gil-Shitrit, A.5
Stepensky, P.6
-
35
-
-
0036657283
-
Fire and ICE: The role of pyrin domain-containing proteins in inflammation and apoptosis
-
Gumucio DL, Díaz A, Schaner P, Richards N, Babcock C, Schaller M, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol. 2002;20:S45-S53.
-
(2002)
Clin Exp Rheumatol
, vol.20
-
-
Gumucio, D.L.1
Díaz, A.2
Schaner, P.3
Richards, N.4
Babcock, C.5
Schaller, M.6
-
36
-
-
33344476398
-
CATERPILLERs, pyrin and hereditary immunological disorders
-
Ting JP-Y, Kastner DL, Hoffman HM. CATERPILLERs, pyrin and hereditary immunological disorders. Nat Rev Immunol. 2006;6:183-95.
-
(2006)
Nat Rev Immunol
, vol.6
, pp. 183-195
-
-
Ting, J.P.-Y.1
Kastner, D.L.2
Hoffman, H.M.3
-
37
-
-
33745631232
-
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production
-
Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production. Proc Natl Acad Sci U S A. 2006;103:9982-7.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 9982-9987
-
-
Chae, J.J.1
Wood, G.2
Masters, S.L.3
Richard, K.4
Park, G.5
Smith, B.J.6
-
38
-
-
0015519154
-
Colchicine for familial Mediterranean fever
-
Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med. 1972;287:1302.
-
(1972)
N Engl J Med
, vol.287
, pp. 1302
-
-
Goldfinger, S.E.1
-
39
-
-
0016378052
-
Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study
-
Goldstein RC, Schwabe AD. Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study. Ann Intern Med. 1974;81:792-4.
-
(1974)
Ann Intern Med
, vol.81
, pp. 792-794
-
-
Goldstein, R.C.1
Schwabe, A.D.2
-
40
-
-
0016251282
-
Colchicine therapy for familial Mediterranean fever. A double-blind trial
-
Dinarello CA, Wolff SM, Goldfinger SE, Dale DC, Alling DW. Colchicine therapy for familial Mediterranean fever. A double-blind trial. N Engl J Med. 1974;291:934-7.
-
(1974)
N Engl J Med
, vol.291
, pp. 934-937
-
-
Dinarello, C.A.1
Wolff, S.M.2
Goldfinger, S.E.3
Dale, D.C.4
Alling, D.W.5
-
41
-
-
0016223474
-
A controlled trial of colchicine in preventing attacks of familial Mediterranean fever
-
Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, et al. A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med. 1974;291:932-4.
-
(1974)
N Engl J Med
, vol.291
, pp. 932-934
-
-
Zemer, D.1
Revach, M.2
Pras, M.3
Modan, B.4
Schor, S.5
Sohar, E.6
-
42
-
-
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;314:1001-5.
-
(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
-
43
-
-
0023183214
-
Colchicine myopathy and neuropathy
-
Kuncl RW, Duncan G, Watson D, Alderson K, Rogawski MA, Peper M. Colchicine myopathy and neuropathy. N Engl J Med. 1987;316:1562-8.
-
(1987)
N Engl J Med
, vol.316
, pp. 1562-1568
-
-
Kuncl, R.W.1
Duncan, G.2
Watson, D.3
Alderson, K.4
Rogawski, M.A.5
Peper, M.6
-
44
-
-
9744279740
-
Colchicine myotoxicity: Case reports and literature review
-
Wilbur W, Makowsky M. Colchicine myotoxicity: case reports and literature review. Pharmacotherapy. 2004;24:1784-92.
-
(2004)
Pharmacotherapy
, vol.24
, pp. 1784-1792
-
-
Wilbur, W.1
Makowsky, M.2
-
45
-
-
0021287627
-
Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
-
Van der Meer JW, Vossen JM, Radl J, Van Nieuwkoop JA, Meyer CJ, Lobatto S, et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087-90.
-
(1984)
Lancet
, vol.1
, pp. 1087-1090
-
-
Van der Meer, J.W.1
Vossen, J.M.2
Radl, J.3
Van Nieuwkoop, J.A.4
Meyer, C.J.5
Lobatto, S.6
-
46
-
-
0041903465
-
Hiperinmunoglobulinemia D y fiebre periódica: Análisis fenotípico de una familia española
-
García-Díaz JD, Álvarez-Blanco MJ. Hiperinmunoglobulinemia D y fiebre periódica: análisis fenotípico de una familia española. Med Clin (Barc). 2000;114:456-9.
-
(2000)
Med Clin (Barc)
, vol.114
, pp. 456-459
-
-
García-Díaz, J.D.1
Álvarez-Blanco, M.J.2
-
47
-
-
2342432395
-
A patient with hyper-IgD syndrome in Antalya, Turkey
-
Coban E, Terzioglu E. A patient with hyper-IgD syndrome in Antalya, Turkey. Clin Rheumatol. 2004;23:177-8.
-
(2004)
Clin Rheumatol
, vol.23
, pp. 177-178
-
-
Coban, E.1
Terzioglu, E.2
-
48
-
-
13444282580
-
Hyperimmunoglobulinemia D syndrome in an Arab child
-
Hammoudeh M. Hyperimmunoglobulinemia D syndrome in an Arab child. Clin Rheumatol. 2005;24:92-4.
-
(2005)
Clin Rheumatol
, vol.24
, pp. 92-94
-
-
Hammoudeh, M.1
-
49
-
-
20144367084
-
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever
-
D'Osualdo A, Picco P, Carola F, Gattorno M, Giacchino R, Fortini P, et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet. 2005;13:314-20.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 314-320
-
-
D'Osualdo, A.1
Picco, P.2
Carola, F.3
Gattorno, M.4
Giacchino, R.5
Fortini, P.6
-
50
-
-
0028026953
-
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD study group
-
Drenth JPH, 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;73:133-44.
-
(1994)
Medicine (Baltimore)
, vol.73
, pp. 133-144
-
-
Drenth, J.P.H.1
Haagsma, C.J.2
Van der Meer, J.W.3
-
51
-
-
0034987162
-
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinemia D
-
Frenkel J, Houten SM, Waterham HR, Wanders RJA, Rijkers GT, Duran M, et al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinemia D. Rheumatology. 2001;40:579-84.
-
(2001)
Rheumatology
, vol.40
, pp. 579-584
-
-
Frenkel, J.1
Houten, S.M.2
Waterham, H.R.3
Wanders, R.J.A.4
Rijkers, G.T.5
Duran, M.6
-
52
-
-
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, Picco P, D'Osualdo A, Palladini G, et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2004;50:2966-9.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 2966-2969
-
-
Obici, L.1
Manno, C.2
Muda, A.O.3
Picco, P.4
D'Osualdo, A.5
Palladini, G.6
-
53
-
-
33745052318
-
AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases
-
Lachmann HJ, Goodman HJ, Andrews PA, Gallagher H, Marsh J, Breuer S, et al. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum. 2006; 54:2010-4.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 2010-2014
-
-
Lachmann, H.J.1
Goodman, H.J.2
Andrews, P.A.3
Gallagher, H.4
Marsh, J.5
Breuer, S.6
-
54
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
-
Houten SM, Kuis W, Duran M, De Koning TJ, Van Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22:175-7.
-
(1999)
Nat Genet
, vol.22
, pp. 175-177
-
-
Houten, S.M.1
Kuis, W.2
Duran, M.3
De Koning, T.J.4
Van Royen-Kerkhof, A.5
Romeijn, G.J.6
-
55
-
-
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, Vasseur C, Van de Velde-Visser SD, De Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999;22:178-81.
-
(1999)
Nat Genet
, vol.22
, pp. 178-181
-
-
Drenth, J.P.1
Cuisset, L.2
Grateau, G.3
Vasseur, C.4
Van de Velde-Visser, S.D.5
De Jong, J.G.6
-
56
-
-
0022634509
-
Mevalonic aciduria: An inborn error of cholesterol and nonsterol isoprene biosynthesis
-
Hoffmann GF, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L, et al. Mevalonic aciduria: an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986;314:1610-4.
-
(1986)
N Engl J Med
, vol.314
, pp. 1610-1614
-
-
Hoffmann, G.F.1
Gibson, K.M.2
Brandt, I.K.3
Bader, P.I.4
Wappner, R.S.5
Sweetman, L.6
-
57
-
-
1842457730
-
Mevalonate kinase deficiency: Evidence for a phenotypic continuum
-
Simon A, Kremer HPH, Wevers RA, Scheffer H, De Jong JG, Van der Meer JWM, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology. 2004;62:994-7.
-
(2004)
Neurology
, vol.62
, pp. 994-997
-
-
Simon, A.1
Kremer, H.P.H.2
Wevers, R.A.3
Scheffer, H.4
De Jong, J.G.5
Van der Meer, J.W.M.6
-
58
-
-
0035055571
-
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
-
Cuisset L, Drenth JPH, Simon A, Vincent MF, Van der Velde Visser S, Van der Meer JWM, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet. 2001;9:260-6.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 260-266
-
-
Cuisset, L.1
Drenth, J.P.H.2
Simon, A.3
Vincent, M.F.4
Van der Velde Visser, S.5
Van der Meer, J.W.M.6
-
59
-
-
0036822810
-
Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome
-
Frenkel J, Rijkers GT, Mandey SHL, Buurman SWM, Houten SM, Wanders RJA, et al. Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2002;46:2794-803.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2794-2803
-
-
Frenkel, J.1
Rijkers, G.T.2
Mandey, S.H.L.3
Buurman, S.W.M.4
Houten, S.M.5
Wanders, R.J.A.6
-
60
-
-
6344252634
-
Geranylgeraniol regulates negatively caspase-1 autoprocessing: Implication in the Th1 response against Mycobacterium tuberculosis
-
Montero MT, Matilla J, Gómez-Mampaso E, Lasunción MA. Geranylgeraniol regulates negatively caspase-1 autoprocessing: implication in the Th1 response against Mycobacterium tuberculosis. J Immunol. 2004; 173:4936-44.
-
(2004)
J Immunol
, vol.173
, pp. 4936-4944
-
-
Montero, M.T.1
Matilla, J.2
Gómez-Mampaso, E.3
Lasunción, M.A.4
-
61
-
-
0034883635
-
Non-steroidal antiinflammatory drugs in the treatment of hyper-IgD syndrome
-
Picco P, Gattorno M, Di Rocco M, Buoncompagni A. Non-steroidal antiinflammatory drugs in the treatment of hyper-IgD syndrome. Ann Rheum Dis. 2001;60:904.
-
(2001)
Ann Rheum Dis
, vol.60
, pp. 904
-
-
Picco, P.1
Gattorno, M.2
Di Rocco, M.3
Buoncompagni, A.4
-
62
-
-
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 JPH, Vonk AG, Simon A, Powell R, Van der Meer JWM. 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;298:1221-6.
-
(2001)
J Pharmacol Exp Ther
, vol.298
, pp. 1221-1226
-
-
Drenth, J.P.H.1
Vonk, A.G.2
Simon, A.3
Powell, R.4
Van der Meer, J.W.M.5
-
63
-
-
0141453408
-
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
-
Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003;48:2645-51.
-
(2003)
Arthritis Rheum
, vol.48
, pp. 2645-2651
-
-
Takada, K.1
Aksentijevich, I.2
Mahadevan, V.3
Dean, J.A.4
Kelley, R.I.5
Kastner, D.L.6
-
64
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
Simon A, Drewe E, Van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AFH, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther. 2004;75:476-83.
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Van der Meer, J.W.3
Powell, R.J.4
Kelley, R.I.5
Stalenhoef, A.F.H.6
-
65
-
-
23844552119
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
-
Bodar EJ, Van der Hilst JCH, Drenth JPH, Van der Meer JWM, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63:260-4.
-
(2005)
Neth J Med
, vol.63
, pp. 260-264
-
-
Bodar, E.J.1
Van der Hilst, J.C.H.2
Drenth, J.P.H.3
Van der Meer, J.W.M.4
Simon, A.5
-
66
-
-
33845807104
-
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis
-
Cailliez M, Garaix F, Rousset-Rouviere C, Bruno D, Kone-Paut I, Sarles J, et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis. 2006;29:763.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 763
-
-
Cailliez, M.1
Garaix, F.2
Rousset-Rouviere, C.3
Bruno, D.4
Kone-Paut, I.5
Sarles, J.6
-
67
-
-
0020428767
-
Familial hibernian fever
-
Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial hibernian fever. Quart J Med. 1982;51:469-80.
-
(1982)
Quart J Med
, vol.51
, pp. 469-480
-
-
Williamson, L.M.1
Hull, D.2
Mehta, R.3
Reeves, W.G.4
Robinson, B.H.5
Toghill, P.J.6
-
68
-
-
0031925542
-
Gene localization for an autosomal dominant familial periodic fever to 12p13
-
Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, et al. Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet. 1998;62:884-9.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 884-889
-
-
Mulley, J.1
Saar, K.2
Hewitt, G.3
Rüschendorf, F.4
Phillips, H.5
Colley, A.6
-
69
-
-
0026669135
-
Autosomal dominant Mediterranean fever in a Finnish family
-
Karenko L, Pettersson T, Roberts P. Autosomal dominant «Mediterranean fever» in a Finnish family. J Int Med. 1992;232:365-9.
-
(1992)
J Int Med
, vol.232
, pp. 365-369
-
-
Karenko, L.1
Pettersson, T.2
Roberts, P.3
-
70
-
-
19944429780
-
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response
-
Arostegui JI, Solis P, Aldea A, Cantero T, Rius J, Bahillo P, et al. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005;164:13-6.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 13-16
-
-
Arostegui, J.I.1
Solis, P.2
Aldea, A.3
Cantero, T.4
Rius, J.5
Bahillo, P.6
-
71
-
-
0036161835
-
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumour necrosis factor receptor-associated periodic syndrome
-
Aganna E, Zeharia A, Timan GA, Basel-Vanagaite L, Allotey RA, Booth DR, et al. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumour necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2002;46:245-9.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 245-249
-
-
Aganna, E.1
Zeharia, A.2
Timan, G.A.3
Basel-Vanagaite, L.4
Allotey, R.A.5
Booth, D.R.6
-
72
-
-
0036225529
-
A novel mutation in the third extracellular domain of the tumour necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever
-
Nevala H, Karenko L, Stjernberg S, Raatikainen M, Suomalainen H, Lagerstedt A, et al. A novel mutation in the third extracellular domain of the tumour necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum. 2002;46:1061-6.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 1061-1066
-
-
Nevala, H.1
Karenko, L.2
Stjernberg, S.3
Raatikainen, M.4
Suomalainen, H.5
Lagerstedt, A.6
-
73
-
-
0037323831
-
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
-
Weyhreter H, Schwartz M, Kristensen TD, Valerius NH, Paerregaard A. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. J Pediatr. 2003;142:191-3.
-
(2003)
J Pediatr
, vol.142
, pp. 191-193
-
-
Weyhreter, H.1
Schwartz, M.2
Kristensen, T.D.3
Valerius, N.H.4
Paerregaard, A.5
-
74
-
-
0036733312
-
The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
-
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002;81:349-68.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 349-368
-
-
Hull, K.M.1
Drewe, E.2
Aksentijevich, I.3
Singh, H.K.4
Wong, K.5
McDermott, E.M.6
-
75
-
-
33745686175
-
Periodic fever without fever: Two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis
-
Kallinich T, Haffner D, Rudolph B, Schindler R, Canaan-Kuhl, Keitzer R, et al. «Periodic fever» without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis. Ann Rheum Dis. 2006;65:958-60.
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 958-960
-
-
Kallinich, T.1
Haffner, D.2
Rudolph, B.3
Schindler, R.4
-
76
-
-
0036676098
-
Monocytic fasciitis. A newly recognized clinical feature of tumor necrosis factor receptor dysfunction
-
Hull KM, Wong K, Wood GM, Chu WS, Kastner DL. Monocytic fasciitis. A newly recognized clinical feature of tumor necrosis factor receptor dysfunction. Arthritis Rheum. 2002;46:2189-94.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2189-2194
-
-
Hull, K.M.1
Wong, K.2
Wood, G.M.3
Chu, W.S.4
Kastner, D.L.5
-
77
-
-
0034609969
-
Treatment of the nephritic syndrome with etanercept in patients with the tumour necrosis factor receptor associated periodic syndrome
-
Drewe E, McDermott EM, Powell PT. Treatment of the nephritic syndrome with etanercept in patients with the tumour necrosis factor receptor associated periodic syndrome. N Engl J Med. 2000;343:1044-5.
-
(2000)
N Engl J Med
, vol.343
, pp. 1044-1045
-
-
Drewe, E.1
McDermott, E.M.2
Powell, P.T.3
-
78
-
-
0037295409
-
Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): Clinical and laboratory findings in a series of seven patients
-
Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology. 2003;42:235-9.
-
(2003)
Rheumatology
, vol.42
, pp. 235-239
-
-
Drewe, E.1
McDermott, E.M.2
Powell, P.T.3
Isaacs, J.D.4
Powell, R.J.5
-
80
-
-
3843110981
-
Beneficial response to interleukin 1 receptor antagonist in TRAPS
-
Simon A, Bodar EJ, Van der Hilst JCH, Van der Meer JVM, Fiselier TJW, Cuppen MPJ, et al. Beneficial response to interleukin 1 receptor antagonist in TRAPS. Am J Med. 2004;117:208-10.
-
(2004)
Am J Med
, vol.117
, pp. 208-210
-
-
Simon, A.1
Bodar, E.J.2
Van der Hilst, J.C.H.3
Van der Meer, J.V.M.4
Fiselier, T.J.W.5
Cuppen, M.P.J.6
|