-
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
-
-
0034095570
-
TNFRSF1A mutations and autoinflammatory syndromes
-
Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000;12:479-86.
-
(2000)
Curr Opin Immunol
, vol.12
, pp. 479-486
-
-
Galon, J.1
Aksentijevich, I.2
McDermott, M.F.3
O'Shea, J.J.4
Kastner, D.L.5
-
3
-
-
0035189451
-
A fever gene comes in from the cold
-
Kastner DL, O'Shea JJ. A fever gene comes in from the cold. Nat Genet 2001;29:241-2.
-
(2001)
Nat Genet
, vol.29
, pp. 241-242
-
-
Kastner, D.L.1
O'Shea, J.J.2
-
4
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
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
-
-
-
5
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
6
-
-
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-Kerhof 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-Kerhof, A.5
Romeijn, G.J.6
-
7
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
-
Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de VeldeVisser SD, de Jong JGN, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:178-81.
-
(1999)
Nat Genet
, vol.22
, pp. 178-181
-
-
Drenth, J.P.H.1
Cuisset, L.2
Grateau, G.3
Vasseur, C.4
Van de VeldeVisser, S.D.5
De Jong, J.G.N.6
-
9
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and MuckleWells syndrome
-
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and MuckleWells 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
Wanderer, A.A.4
Kolodner, R.D.5
-
10
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
Miceli-Richard C, Lesage S, Rybojad M, Prieur A-M, ManouvrierHanu S, Häfner R, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
-
(2001)
Nat Genet
, vol.29
, pp. 19-20
-
-
Miceli-Richard, C.1
Lesage, S.2
Rybojad, M.3
Prieur, A.-M.4
ManouvrierHanu, S.5
Häfner, R.6
-
11
-
-
0020631580
-
Neonatal onset multisystem inflammatory disease
-
Hassink SG, Goldsmith DP. Neonatal onset multisystem inflammatory disease. Arthritis Rheum 1983;26:668-73.
-
(1983)
Arthritis Rheum
, vol.26
, pp. 668-673
-
-
Hassink, S.G.1
Goldsmith, D.P.2
-
12
-
-
0021992710
-
Infantile multisystem inflammatory disease: A specific syndrome?
-
Yarom A, Rennenbohm RM, Levinson JE. Infantile multisystem inflammatory disease: A specific syndrome? J Pediatr 1985;106: 390-6.
-
(1985)
J Pediatr
, vol.106
, pp. 390-396
-
-
Yarom, A.1
Rennenbohm, R.M.2
Levinson, J.E.3
-
13
-
-
0022039110
-
The right stuff for a new syndrome
-
Goldsmith DP: The right stuff for a new syndrome. J Pediatr 1985;106:441-3.
-
(1985)
J Pediatr
, vol.106
, pp. 441-443
-
-
Goldsmith, D.P.1
-
14
-
-
0019425358
-
Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
-
Prieur A-M, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 1981;99:79-83.
-
(1981)
J Pediatr
, vol.99
, pp. 79-83
-
-
Prieur, A.-M.1
Griscelli, C.2
-
15
-
-
0023894493
-
A chronic, infantile, neurologic, cutaneous and articular (CINCA) syndrome: A specific entity analysed in 30 patients
-
Prieur A-M, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurologic, 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
Truckenbrodt, H.4
Guggenheim, M.A.5
Lovell, D.J.6
-
16
-
-
0030782207
-
Recognition of infantile-onset multisystem inflammatory disease as a unique entity
-
Hashkes PJ, Lovell DJ. Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr 1997;130:513-5.
-
(1997)
J Pediatr
, vol.130
, pp. 513-515
-
-
Hashkes, P.J.1
Lovell, D.J.2
-
17
-
-
0035098521
-
A recently recognized chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy
-
Prieur A-M. A recently recognized chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001; 19:103-6.
-
(2001)
Clin Exp Rheumatol
, vol.19
, pp. 103-106
-
-
Prieur, A.-M.1
-
18
-
-
0022518168
-
Infantile-onset multisystem inflammatory disease: Radiologic findings
-
Kaufman RA, Lovell DJ. Infantile-onset multisystem inflammatory disease: Radiologic findings. Radiology 1986;160:741-6.
-
(1986)
Radiology
, vol.160
, pp. 741-746
-
-
Kaufman, R.A.1
Lovell, D.J.2
-
19
-
-
0024352428
-
NOMID - A neonatal syndrome of multisystem inflammation
-
Torbiak RP, Dent PB, Cockshott WP. NOMID - A neonatal syndrome of multisystem inflammation. Skeletal Radiol 1989;18: 359-64.
-
(1989)
Skeletal Radiol
, vol.18
, pp. 359-364
-
-
Torbiak, R.P.1
Dent, P.B.2
Cockshott, W.P.3
-
20
-
-
0016548609
-
Familial arthropathy with rash, uveitis and mental retardation
-
Ansell MB, Bywaters EG, Elderkin FM. Familial arthropathy with rash, uveitis and mental retardation. Proc R Soc Med 1975;68: 584-5.
-
(1975)
Proc R Soc Med
, vol.68
, pp. 584-585
-
-
Ansell, M.B.1
Bywaters, E.G.2
Elderkin, F.M.3
-
21
-
-
4243452171
-
CINCA/NOMID (CN): Further clinical observations
-
Goldsmith DP, Lasky AS, Prieur AM. CINCA/NOMID (CN): further clinical observations [abstract]. Arthritis Rheum 1996;39 Suppl 9:S236.
-
(1996)
Arthritis Rheum
, vol.39
, Issue.SUPPL. 9
-
-
Goldsmith, D.P.1
Lasky, A.S.2
Prieur, A.M.3
-
22
-
-
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
-
23
-
-
73649189052
-
Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
-
Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome. QJM 1962;31:235-48.
-
(1962)
QJM
, vol.31
, pp. 235-248
-
-
Muckle, T.J.1
Wells, M.2
-
24
-
-
0034520137
-
The PYRIN domain: A novel motif found in apoptosis and inflammation proteins
-
Bertin J, DiStefano PS. The PYRIN domain: A novel motif found in apoptosis and inflammation proteins. Cell Death Differ 2000; 7:1273-4.
-
(2000)
Cell Death Differ
, vol.7
, pp. 1273-1274
-
-
Bertin, J.1
DiStefano, P.S.2
-
25
-
-
0034804347
-
Pyrin N-terminal homology domain- and caspase recruitment domain-dependent oligomerization of ASC
-
Masumoto J, Taniguchi S, Sagara J. Pyrin N-terminal homology domain- and caspase recruitment domain-dependent oligomerization of ASC. Biochem Biophys Res Commun 2001;280:652-5.
-
(2001)
Biochem Biophys Res Commun
, vol.280
, pp. 652-655
-
-
Masumoto, J.1
Taniguchi, S.2
Sagara, J.3
-
26
-
-
0035916324
-
The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation
-
Martinon F, Hofmann K, Tschopp J: The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001;11:R118-20.
-
(2001)
Curr Biol
, vol.11
-
-
Martinon, F.1
Hofmann, K.2
Tschopp, J.3
-
27
-
-
0035253022
-
The DAPIN family: A novel domain links apoptotic and interferon response proteins
-
Staub E, Dahl E, Rosenthal A. The DAPIN family: A novel domain links apoptotic and interferon response proteins. Trends Biochem Sci 2001;26:83-5.
-
(2001)
Trends Biochem Sci
, vol.26
, pp. 83-85
-
-
Staub, E.1
Dahl, E.2
Rosenthal, A.3
-
28
-
-
0035253123
-
PAAD - A new protein domain associated with apoptosis, cancer and autoimmune diseases
-
Pawlowski K, Pio F, Chu Z, Reed JC, Godzik A, PAAD - A new protein domain associated with apoptosis, cancer and autoimmune diseases. Trends Biochem Sci 2001;26:85-7.
-
(2001)
Trends Biochem Sci
, vol.26
, pp. 85-87
-
-
Pawlowski, K.1
Pio, F.2
Chu, Z.3
Reed, J.C.4
Godzik, A.5
-
29
-
-
0034857603
-
The PYRIN domain: A member of the death domain-fold superfamily
-
Fairbrother WJ, Gordon NC, Humke EW, O'Rourke KM, Starovasnik MA, Yin J-P, et al. The PYRIN domain: A member of the death domain-fold superfamily. Protein Sci 2001;10:1911-8.
-
(2001)
Protein Sci
, vol.10
, pp. 1911-1918
-
-
Fairbrother, W.J.1
Gordon, N.C.2
Humke, E.W.3
O'Rourke, K.M.4
Starovasnik, M.A.5
Yin, J.-P.6
-
30
-
-
0035914452
-
Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
-
Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001;276: 39320-9.
-
(2001)
J Biol Chem
, vol.276
, pp. 39320-39329
-
-
Richards, N.1
Schaner, P.2
Diaz, A.3
Stuckey, J.4
Shelden, E.5
Wadhwa, A.6
-
31
-
-
0037192793
-
PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-κB
-
Manji GA, Wang L, Geddes BJ, Brown M, Merriam S, Al-Garawi A, et al. PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-κB. J Biol Chem 2002;277:11570-5.
-
(2002)
J Biol Chem
, vol.277
, pp. 11570-11575
-
-
Manji, G.A.1
Wang, L.2
Geddes, B.J.3
Brown, M.4
Merriam, S.5
Al-Garawi, A.6
-
32
-
-
0010464874
-
PYPAF7: A novel PYRIN-containing Apaf1-like protein that regulates activation of NF-κB and caspase-1-dependent cytokine processing
-
Wang L, Manji GA, Grenier J, Al-Garawi A, Merriam S, Lora JM, et al. PYPAF7: A novel PYRIN-containing Apaf1-like protein that regulates activation of NF-κB and caspase-1-dependent cytokine processing. J Biol Chem 2002;277:29874-80.
-
(2002)
J Biol Chem
, vol.277
, pp. 29874-29880
-
-
Wang, L.1
Manji, G.A.2
Grenier, J.3
Al-Garawi, A.4
Merriam, S.5
Lora, J.M.6
-
33
-
-
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, Berquin P, Certain S, Cortis E, 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
Berquin, P.4
Certain, S.5
Cortis, E.6
-
34
-
-
0034799473
-
Chronic infantile neurological cutaneous and articular syndrome: Two new cases with rare manifestations
-
Russo RAG, Katsicas MM. Chronic infantile neurological cutaneous and articular syndrome: Two new cases with rare manifestations. Acta Paediatr 2001;90:1076-9.
-
(2001)
Acta Paediatr
, vol.90
, pp. 1076-1079
-
-
Russo, R.A.G.1
Katsicas, M.M.2
-
35
-
-
18344385660
-
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot J-M, Vaudour G, 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: 1498-1506.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1498-1506
-
-
Dodé, C.1
Le Dû, N.2
Cuisset, L.3
Letourneur, F.4
Berthelot, J.-M.5
Vaudour, G.6
-
36
-
-
0031831906
-
Interleukin-1, interleukin-1 receptors and interleukin-1 receptor antagonist
-
Dinarello CA. Interleukin-1, interleukin-1 receptors and interleukin-1 receptor antagonist. Int Rev Immunol 1998;16:457-99.
-
(1998)
Int Rev Immunol
, vol.16
, pp. 457-499
-
-
Dinarello, C.A.1
-
37
-
-
0028814278
-
Balance of IL-1 receptor antagonist/IL-1β in rheumatoid synovium and its regulation by IL-4 and IL-10
-
Chomarat P, Vannier E, Dechanet J, Rissoan MC, Banchereau J, Dinarello CA, et al. Balance of IL-1 receptor antagonist/IL-1β in rheumatoid synovium and its regulation by IL-4 and IL-10. J Immunol 1995;154:1432-9.
-
(1995)
J Immunol
, vol.154
, pp. 1432-1439
-
-
Chomarat, P.1
Vannier, E.2
Dechanet, J.3
Rissoan, M.C.4
Banchereau, J.5
Dinarello, C.A.6
-
38
-
-
0035989709
-
Intracellular signal transduction in eosinophils and its clinical significance
-
Wong CK, Zhang J, Ip WK, Lam CW. Intracellular signal transduction in eosinophils and its clinical significance. Immunopharmacol Immunotoxicol 2002;24:165-86.
-
(2002)
Immunopharmacol Immunotoxicol
, vol.24
, pp. 165-186
-
-
Wong, C.K.1
Zhang, J.2
Ip, W.K.3
Lam, C.W.4
-
39
-
-
0036247211
-
Cytokines and chemoattractants in allergic inflammation
-
Romagnani S. Cytokines and chemoattractants in allergic inflammation. Mol Immunol 2002;38:881-5.
-
(2002)
Mol Immunol
, vol.38
, pp. 881-885
-
-
Romagnani, S.1
-
40
-
-
0031841599
-
Circadian elevation of IL-6 levels in Muckle-Wells syndrome: A disorder of the neuro-immune axis?
-
Gerbig AW, Dahinden CA, Mullis P, Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: A disorder of the neuro-immune axis? QJM 1998;91:489-92.
-
(1998)
QJM
, vol.91
, pp. 489-492
-
-
Gerbig, A.W.1
Dahinden, C.A.2
Mullis, P.3
Hunziker, T.4
-
41
-
-
0034194079
-
The NACHT family: A new group of predicted NTPases implicated in apoptosis and MHC transcription activation
-
Koonin EV, Aravind L. The NACHT family: A new group of predicted NTPases implicated in apoptosis and MHC transcription activation [letter]. Trends Biochem Sci 2000;25:223-4.
-
(2000)
Trends Biochem Sci
, vol.25
, pp. 223-224
-
-
Koonin, E.V.1
Aravind, L.2
-
42
-
-
0030856357
-
Infantile-onset multisystem inflammatory disease: A differential diagnosis of systemic juvenile rheumatoid arthritis
-
De Cunto CL, Liberatore DI, San Roman JL, Goldberg JC, Morandi AA, Feldman G. Infantile-onset multisystem inflammatory disease: A differential diagnosis of systemic juvenile rheumatoid arthritis. J Pediatr 1997;130:551-6.
-
(1997)
J Pediatr
, vol.130
, pp. 551-556
-
-
De Cunto, C.L.1
Liberatore, D.I.2
San Roman, J.L.3
Goldberg, J.C.4
Morandi, A.A.5
Feldman, G.6
-
43
-
-
0037077283
-
The PYRIN-CARD protein ASC is an activating adaptor for caspase-1
-
Srinivasula SM, Poyet JL, Razmara M, Datta P, Zhang Z, Alnemri ES. The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem 2002;277:21119-22.
-
(2002)
J Biol Chem
, vol.277
, pp. 21119-21122
-
-
Srinivasula, S.M.1
Poyet, J.L.2
Razmara, M.3
Datta, P.4
Zhang, Z.5
Alnemri, E.S.6
-
44
-
-
0036190776
-
Treatment of rheumatoid arthritis with anakinra, a recombinant human interleukin-1 receptor antagonist, in combination with methotrexate: Results of a twenty-four-week, multicenter, randomized, double-blind, placebo-controlled trial
-
Cohen S, Hurd E, Cush J, Schiff M, Weinblatt ME, Moreland LW, et al. Treatment of rheumatoid arthritis with anakinra, a recombinant human interleukin-1 receptor antagonist, in combination with methotrexate: Results of a twenty-four-week, multicenter, randomized, double-blind, placebo-controlled trial. Arthritis Rheum 2002;46:614-24.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 614-624
-
-
Cohen, S.1
Hurd, E.2
Cush, J.3
Schiff, M.4
Weinblatt, M.E.5
Moreland, L.W.6
-
45
-
-
0029006759
-
Neonatal onset multisystem inflammatory disease
-
Huttenlocher A, Frieden IJ, Emery H. Neonatal onset multisystem inflammatory disease. J Rheumatol 1995;22:1171-3.
-
(1995)
J Rheumatol
, vol.22
, pp. 1171-1173
-
-
Huttenlocher, A.1
Frieden, I.J.2
Emery, H.3
|