-
1
-
-
0018647846
-
The 'Muckle-Wells' syndrome
-
Muckle TJ. The 'Muckle-Wells' syndrome. Br J Dermatol 1979;100:87-92.
-
(1979)
Br J Dermatol
, vol.100
, pp. 87-92
-
-
Muckle, T.J.1
-
2
-
-
0019174538
-
Chronic meningo-cutaneo-articular syndrome in children
-
Prieur AM, Griscelli C. Chronic meningo-cutaneo-articular syndrome in children. Rev Rhum Mal Osteoartic 1980;47:645-9.
-
(1980)
Rev Rhum Mal Osteoartic
, vol.47
, pp. 645-649
-
-
Prieur, A.M.1
Griscelli, C.2
-
3
-
-
0034774916
-
Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
-
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.
-
(2001)
J Allergy Clin Immunol
, vol.108
, pp. 615-620
-
-
Hoffman, H.M.1
Wanderer, A.A.2
Broide, D.H.3
-
4
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
-
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.
-
(2001)
Nat Genet
, vol.29
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Broide, D.H.3
-
5
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
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.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
-
6
-
-
0036899758
-
De novo CAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
-
Aksentijevich I, Nowak M, Mallah M, et al. De novo CAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46:3340-8.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
-
7
-
-
41349094800
-
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients
-
Saito M, Nishikomori R, Kambe N, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 2008;111:2132-41.
-
(2008)
Blood
, vol.111
, pp. 2132-2141
-
-
Saito, M.1
Nishikomori, R.2
Kambe, N.3
-
8
-
-
77950543908
-
A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases
-
Arostegui JI, Lopez Saldana MD, Pascal M, et al. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. Arthritis Rheum 2010;62:1158-66.
-
(2010)
Arthritis Rheum
, vol.62
, pp. 1158-1166
-
-
Arostegui, J.I.1
Lopez Saldana, M.D.2
Pascal, M.3
-
9
-
-
80155148684
-
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an International Multicenter Collaborative Study
-
Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum 2011;63:3625-32.
-
(2011)
Arthritis Rheum
, vol.63
, pp. 3625-3632
-
-
Tanaka, N.1
Izawa, K.2
Saito, M.K.3
-
10
-
-
33750838535
-
Recent advances in the molecular pathogenesis of hereditary recurrent fevers
-
Masters SL, Lobito AA, Chae J, et al. Recent advances in the molecular pathogenesis of hereditary recurrent fevers. Curr Opin Allergy Clin Immunol 2006;6:428-33.
-
(2006)
Curr Opin Allergy Clin Immunol
, vol.6
, pp. 428-433
-
-
Masters, S.L.1
Lobito, A.A.2
Chae, J.3
-
11
-
-
79951517164
-
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: Epidemiological study and lessons from eight years of genetic analysis in France
-
Cuisset L, Jeru I, Dumont B, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis 2011;70:495-9.
-
(2011)
Ann Rheum Dis
, vol.70
, pp. 495-499
-
-
Cuisset, L.1
Jeru, I.2
Dumont, B.3
-
12
-
-
85028214031
-
-
http://fmf.igh.cnrs.fr/infevers.
-
-
-
-
13
-
-
49449094892
-
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome
-
Goldbach-Mansky R, Shroff SD, Wilson M, et al. A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. Arthritis Rheum 2008;58:2432-42.
-
(2008)
Arthritis Rheum
, vol.58
, pp. 2432-2442
-
-
Goldbach-Mansky, R.1
Shroff, S.D.2
Wilson, M.3
-
14
-
-
84859877626
-
The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1beta and IL-18 production
-
Verma D, Sarndahl E, Andersson H, et al. The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1beta and IL-18 production. PLoS ONE 2012;7:e34977.
-
(2012)
PLoS ONE
, vol.7
, pp. e34977
-
-
Verma, D.1
Sarndahl, E.2
Andersson, H.3
-
15
-
-
18344385660
-
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
Dode C, Le Du 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.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1498-1506
-
-
Dode, C.1
Le Du, N.2
Cuisset, L.3
-
16
-
-
12144288979
-
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
-
Neven B, Callebaut I, Prieur AM, et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004;103:2809-15.
-
(2004)
Blood
, vol.103
, pp. 2809-2815
-
-
Neven, B.1
Callebaut, I.2
Prieur, A.M.3
-
17
-
-
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
-
18
-
-
84862549168
-
An International registry on Autoinflammatory diseases: The Eurofever experience
-
Toplak N, Frenkel J, Ozen S, et al. An International registry on Autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012;71:1177-82.
-
(2012)
Ann Rheum Dis
, vol.71
, pp. 1177-1182
-
-
Toplak, N.1
Frenkel, J.2
Ozen, S.3
-
19
-
-
0033358561
-
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
-
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.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1054-1059
-
-
Cuisset, L.1
Drenth, J.P.2
Berthelot, J.M.3
-
20
-
-
73649189052
-
Urticaria, deafness and amyloïdosis: A new heredo-familial syndrome
-
Muckle TJ, Wells M. Urticaria, deafness and amyloïdosis: a new heredo-familial syndrome. J Med 1962;122:235-48.
-
(1962)
J Med
, vol.122
, pp. 235-248
-
-
Muckle, T.J.1
Wells, M.2
-
21
-
-
0023894493
-
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients
-
Prieur AM, Griscelli C, Lampert F, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66:57-68.
-
(1987)
Scand J Rheumatol Suppl
, vol.66
, pp. 57-68
-
-
Prieur, A.M.1
Griscelli, C.2
Lampert, F.3
-
22
-
-
77951473388
-
Neurologic manifestations of the cryopyrin-associated periodic syndrome
-
Kitley JL, Lachmann HJ, Pinto A, et al. Neurologic manifestations of the cryopyrin-associated periodic syndrome. Neurology 2010;74:1267-70.
-
(2010)
Neurology
, vol.74
, pp. 1267-1270
-
-
Kitley, J.L.1
Lachmann, H.J.2
Pinto, A.3
-
23
-
-
84875724727
-
AA amyloidosis complicating the hereditary periodic fever syndromes
-
Lane T, Loeffler JM, Rowczenio DM, et al. AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum 2013;65:1116-21.
-
(2013)
Arthritis Rheum
, vol.65
, pp. 1116-1121
-
-
Lane, T.1
Loeffler, J.M.2
Rowczenio, D.M.3
-
24
-
-
33745880105
-
A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents
-
Matsubara T, Hasegawa M, Shiraishi M, et al. A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents. Arthritis Rheum 2006;54:2314-20.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 2314-2320
-
-
Matsubara, T.1
Hasegawa, M.2
Shiraishi, M.3
-
25
-
-
33847379803
-
Clinical and genetic characterization of Italian patients affected by CINCA syndrome
-
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.
-
(2007)
Rheumatology (Oxford)
, vol.46
, pp. 473-478
-
-
Caroli, F.1
Pontillo, A.2
D'Osualdo, A.3
-
26
-
-
78349291842
-
Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: Epidemiological, clinical and genetic characteristics
-
Lainka E, Neudorf U, Lohse P, et al. Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. Klin Padiatr 2010;222:356-61.
-
(2010)
Klin Padiatr
, vol.222
, pp. 356-361
-
-
Lainka, E.1
Neudorf, U.2
Lohse, P.3
-
27
-
-
40149105568
-
Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): Description of a rare non-exon 3 and a novel CIAS1 missense mutation
-
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.
-
(2008)
J Clin Immunol
, vol.28
, pp. 134-138
-
-
Jesus, A.A.1
Silva, C.A.2
Segundo, G.R.3
-
28
-
-
4644370590
-
A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy
-
Stojanov S, Weiss M, Lohse P, et al. A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. Pediatrics 2004;114:e124-127.
-
(2004)
Pediatrics
, vol.114
, pp. e124-e127
-
-
Stojanov, S.1
Weiss, M.2
Lohse, P.3
-
29
-
-
84879737802
-
Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation
-
Canoui E, Maigne G, Jeru I, et al. Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation. Clin Immunol 2013;148:299-300.
-
(2013)
Clin Immunol
, vol.148
, pp. 299-300
-
-
Canoui, E.1
Maigne, G.2
Jeru, I.3
-
30
-
-
10444241090
-
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
-
Arostegui 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.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 4045-4050
-
-
Arostegui, J.I.1
Aldea, A.2
Modesto, C.3
-
31
-
-
0041332759
-
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment
-
Rosen-Wolff A, Quietzsch J, Schroder H, et al. Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. Eur J Haematol 2003;71:215-19.
-
(2003)
Eur J Haematol
, vol.71
, pp. 215-219
-
-
Rosen-Wolff, A.1
Quietzsch, J.2
Schroder, H.3
-
32
-
-
27944453423
-
Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome
-
Seitz M, Kamgang RK, Simon HU, et al. Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased tumour necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with CINCA syndrome. Ann Rheum Dis 2005;64:1802-3.
-
(2005)
Ann Rheum Dis
, vol.64
, pp. 1802-1803
-
-
Seitz, M.1
Kamgang, R.K.2
Simon, H.U.3
-
33
-
-
0037251380
-
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes
-
Granel B, Philip N, Serratrice J, et al. CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. Dermatology 2003;206:257-9.
-
(2003)
Dermatology
, vol.206
, pp. 257-259
-
-
Granel, B.1
Philip, N.2
Serratrice, J.3
-
34
-
-
5644230842
-
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome
-
Janssen R, Verhard E, Lankester A, et al. Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2004;50:3329-33.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 3329-3333
-
-
Janssen, R.1
Verhard, E.2
Lankester, A.3
-
35
-
-
0036745064
-
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
-
Aganna E, Martinon F, Hawkins PN, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 2002;46:2445-52.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2445-2452
-
-
Aganna, E.1
Martinon, F.2
Hawkins, P.N.3
-
36
-
-
82655170808
-
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome-description of a heterogeneous phenotype and response to treatment
-
Kuemmerle-Deschner JB, Lohse P, Koetter I, et al. NLRP3 E311K mutation in a large family with Muckle-Wells syndrome-description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther 2011;13:R196.
-
(2011)
Arthritis Res Ther
, vol.13
, pp. R196
-
-
Kuemmerle-Deschner, J.B.1
Lohse, P.2
Koetter, I.3
-
37
-
-
3242742145
-
Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients-expanding phenotype of CIAS1 related autoinflammatory syndrome
-
Porksen G, Lohse P, Rosen-Wolff A, et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients-expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur J Haematol 2004;73:123-7.
-
(2004)
Eur J Haematol
, vol.73
, pp. 123-127
-
-
Porksen, G.1
Lohse, P.2
Rosen-Wolff, A.3
-
38
-
-
84873943111
-
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
-
Rowczenio DM, Trojer H, Russell T, et al. Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis Res Ther 2013;15:R30.
-
(2013)
Arthritis Res Ther
, vol.15
, pp. R30
-
-
Rowczenio, D.M.1
Trojer, H.2
Russell, T.3
|