-
2
-
-
1842866229
-
Clinical and genetic aspects of the hereditary periodic fever syndromes
-
DOI 10.1093/rheumatology/keh157
-
Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford) 2004;43:410-5. (Pubitemid 38489355)
-
(2004)
Rheumatology
, vol.43
, Issue.4
, pp. 410-415
-
-
Grateau, G.1
-
3
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
-
DOI 10.1038/ng756
-
Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5. (Pubitemid 33096455)
-
(2001)
Nature Genetics
, vol.29
, Issue.3
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
4
-
-
0033358561
-
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
-
DOI 10.1086/302589
-
Cuisset L, Drenth JP, Berthelot JM, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 1999;65:1054-9. (Pubitemid 30462962)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.4
, pp. 1054-1059
-
-
Cuisset, L.1
Drenth, J.P.H.2
Berthelot, J.-M.3
Meyrier, A.4
Vaudour, G.5
Watts, R.A.6
Scott, D.G.I.7
Nicholls, A.8
Pavek, S.9
Vasseur, C.10
Beckmann, J.S.11
Delpech, M.12
Grateau, G.13
-
5
-
-
0033940611
-
Identification of a locus chromosome 1q44 for familial cold urticaria
-
DOI 10.1086/302874
-
Hoffman HM, Wright FA, Broide DH, et al. Identification of a locus on chromosome 1q44 for familial cold urticaria. Am J Hum Genet 2000;66:1693-8. (Pubitemid 30463089)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.5
, pp. 1693-1698
-
-
Hoffman, H.M.1
Wright, F.A.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
6
-
-
0036671894
-
The Inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
-
DOI 10.1016/S1097-2765(02)00599-3
-
Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 2002;10:417-26. (Pubitemid 35007355)
-
(2002)
Molecular Cell
, vol.10
, Issue.2
, pp. 417-426
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
7
-
-
44849122715
-
The infevers autoinflammatory mutation online registry: Update with new genes and functions
-
DOI 10.1002/humu.20720
-
Milhavet F, Cuisset L, Hoffman HM, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 2008;29:803-8. (Pubitemid 351794131)
-
(2008)
Human Mutation
, vol.29
, Issue.6
, pp. 803-808
-
-
Milhavet, F.1
Cuisset, L.2
Hoffman, H.M.3
Slim, R.4
El-Shanti, H.5
Aksentijevich, I.6
Lesage, S.7
Waterham, H.8
Wise, C.9
De, M.C.S.10
Touitou, I.11
-
8
-
-
34247252063
-
The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model
-
Aksentijevich I, D Putnam C, Remmers EF, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273-85.
-
(2007)
Arthritis Rheum
, vol.56
, pp. 1273-1285
-
-
Aksentijevich, I.1
D Putnam, C.2
Remmers, E.F.3
-
9
-
-
4043060827
-
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1 [8]
-
DOI 10.1002/art.20295
-
Frenkel J, van Kempen MJ, Kuis W, et al. Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. Arthritis Rheum 2004;50:2719-20. (Pubitemid 39062743)
-
(2004)
Arthritis and Rheumatism
, vol.50
, Issue.8
, pp. 2719-2720
-
-
Frenkel, J.1
Van, K.M.J.A.2
Kuis, W.3
Van, A.H.K.P.4
-
10
-
-
77950547943
-
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder
-
Jéru I, Marlin S, Le Borgne G, et al. Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis Rheum 2010;62:1176-85.
-
(2010)
Arthritis Rheum
, vol.62
, pp. 1176-1185
-
-
Jéru, I.1
Marlin, S.2
Le Borgne, G.3
-
11
-
-
40149105568
-
Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): Description of a rare non-exon 3 and a novel CIAS1 missense mutation
-
DOI 10.1007/s10875-007-9150-7
-
Jesus AA, Silva CA, Segundo GR, et al. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol 2008;28:134-8. (Pubitemid 351328954)
-
(2008)
Journal of Clinical Immunology
, vol.28
, Issue.2
, pp. 134-138
-
-
Jesus, A.A.1
Silva, C.A.2
Segundo, G.R.3
Aksentijevich, I.4
Fujihira, E.5
Watanabe, M.6
Carneiro-Sampaio, M.7
Duarte, A.J.S.8
Oliveira, J.B.9
-
12
-
-
31944450555
-
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
-
DOI 10.1080/08035250500341451, PII WM8J50078774JV0J
-
Matsubayashi T, Sugiura H, Arai T, et al. Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006;95:246-9. (Pubitemid 43189022)
-
(2006)
Acta Paediatrica, International Journal of Paediatrics
, vol.95
, Issue.2
, pp. 246-249
-
-
Matsubayashi, T.1
Sugiura, H.2
Arai, T.3
Oh-Ishi, T.4
Inamo, Y.5
-
13
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
DOI 10.1086/341357
-
Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71:198-203. (Pubitemid 34734724)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.1
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.-M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
Teillac-Harnel, D.7
Fischer, A.8
De, S.B.G.9
-
14
-
-
0037792866
-
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
-
Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003;348:2583-4.
-
(2003)
N Engl J Med
, vol.348
, pp. 2583-2584
-
-
Hawkins, P.N.1
Lachmann, H.J.2
McDermott, M.F.3
-
15
-
-
33845686908
-
Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations
-
DOI 10.1001/archderm.142.12.1591
-
Leslie KS, Lachmann HJ, Bruning E, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006;142:1591-7. (Pubitemid 44969215)
-
(2006)
Archives of Dermatology
, vol.142
, Issue.12
, pp. 1591-1597
-
-
Leslie, K.S.1
Lachmann, H.J.2
Bruning, E.3
McGrath, J.A.4
Bybee, A.5
Gallimore, J.R.6
Roberts, P.F.7
Woo, P.8
Grattan, C.E.9
Hawkins, P.N.10
-
16
-
-
33847379803
-
Clinical and genetic characterization of Italian patients affected by CINCA syndrome
-
DOI 10.1093/rheumatology/kel269
-
Caroli F, Pontillo A, D'Osualdo A, et al. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford) 2007;46:473-8. (Pubitemid 46344661)
-
(2007)
Rheumatology
, vol.46
, Issue.3
, pp. 473-478
-
-
Caroli, F.1
Pontillo, A.2
D'Osualdo, A.3
Travan, L.4
Ceccherini, I.5
Crovella, S.6
Alessio, M.7
Stabile, A.8
Gattorno, M.9
Tommasini, A.10
Martini, A.11
Lepore, L.12
-
17
-
-
0035851284
-
Genetic analysis as a valuable key to diagnosis and treatment of periodic fever
-
Simon A, van Deuren M, Tighe PJ, et al. Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever. Arch Intern Med 2001;161:2491-3. (Pubitemid 33043123)
-
(2001)
Archives of Internal Medicine
, vol.161
, Issue.20
, pp. 2491-2493
-
-
Simon, A.1
Van, D.M.2
Tighe, P.J.3
Van, D.M.J.W.M.4
Drenth, J.P.H.5
-
18
-
-
18344385660
-
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
DOI 10.1086/340786
-
Dodé C, Le Dû N, Cuisset L, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002;70:1498-506. (Pubitemid 34533897)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.6
, pp. 1498-1506
-
-
Dode, C.1
Le, D.N.2
Cuisset, L.3
Letourneur, F.4
Berthelot, J.-M.5
Vaudour, G.6
Meyrier, A.7
Watts, R.A.8
Scott, D.G.I.9
Nicholls, A.10
Granel, B.11
Frances, C.12
Garcier, F.13
Edery, P.14
Boulinguez, S.15
Domergues, J.-P.16
Delpech, M.17
Grateau, G.18
-
19
-
-
10444241090
-
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
-
DOI 10.1002/art.20633
-
Aróstegui JI, Aldea A, Modesto C, et al. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum 2004;50:4045-50. (Pubitemid 39643954)
-
(2004)
Arthritis and Rheumatism
, vol.50
, Issue.12
, pp. 4045-4050
-
-
Arostegui, J.I.1
Aldea, A.2
Modesto, C.3
Rua, M.J.4
Arguelles, F.5
Gonzalez-Ensenat, M.A.6
Ramos, E.7
Rius, J.8
Plaza, S.9
Vives, J.10
Yague, J.11
-
20
-
-
0034774916
-
Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
-
DOI 10.1067/mai.2001.118790
-
Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001;108:615-20. (Pubitemid 32978035)
-
(2001)
Journal of Allergy and Clinical Immunology
, vol.108
, Issue.4
, pp. 615-620
-
-
Hoffman, H.M.1
Wanderer, A.A.2
Broide, D.H.3
-
21
-
-
66649102432
-
Use of canakinumab in the cryopyrin-associated periodic syndrome
-
Canakinumab in CAPS Study Group
-
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 2009;360:2416-25.
-
(2009)
N Engl J Med
, vol.360
, pp. 2416-2425
-
-
Lachmann, H.J.1
Kone-Paut, I.2
Kuemmerle-Deschner, J.B.3
-
22
-
-
2142700031
-
The spectrum of acquired and familial cold-induced urticaria/urticaria- like syndromes
-
vii
-
Wanderer AA, Hoffman HM. The spectrum of acquired and familial cold-induced urticaria/urticaria-like syndromes. Immunol Allergy Clin North Am 2004;24:259-86 , vii.
-
(2004)
Immunol Allergy Clin North Am
, vol.24
, pp. 259-286
-
-
Wanderer, A.A.1
Hoffman, H.M.2
-
23
-
-
33750292903
-
Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations [2]
-
DOI 10.1136/ard.2006.054312
-
Touitou I, Perez C, Dumont B, et al. Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations. Ann Rheum Dis 2006;65:1530-1. (Pubitemid 44629137)
-
(2006)
Annals of the Rheumatic Diseases
, vol.65
, Issue.11
, pp. 1530-1531
-
-
Touitou, I.1
Perez, C.2
Dumont, B.3
Federici, L.4
Jorgensen, C.5
-
24
-
-
45349095718
-
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
-
DOI 10.1002/art.23474
-
Gattorno M, Sormani MP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008;58:1823-32. (Pubitemid 351847537)
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.6
, pp. 1823-1832
-
-
Gattorno, M.1
Sormani, M.P.2
D'Osualdo, A.3
Pelagatti, M.A.4
Caroli, F.5
Federici, S.6
Cecconi, M.7
Solari, N.8
Meini, A.9
Zulian, F.10
Obici, L.11
Breda, L.12
Martino, S.13
Tommasini, A.14
Bossi, G.15
Govers, A.16
Touitou, I.17
Woo, P.18
Frenkel, J.19
Kone-Paut, I.20
Baldi, M.21
Ceccherini, I.22
Martini, A.23
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