-
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 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 97:133 144.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
-
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 12:479 486.
-
(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
-
4
-
-
18644385740
-
Inherited autoinflammatory syndromes: An expanding new group of chronic inflammatory diseases
-
Gattorno M, Martini A. Inherited autoinflammatory syndromes: an expanding new group of chronic inflammatory diseases. Clin Exp Rheumatol 2005 23:133 136.
-
(2005)
Clin Exp Rheumatol
, vol.23
, pp. 133-136
-
-
Gattorno, M.1
Martini, A.2
-
5
-
-
0036899758
-
De novo CIAS1 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 CIAS1 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 3348.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
-
6
-
-
0037216780
-
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
-
Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003 15:61 69.
-
(2003)
Curr Opin Rheumatol
, vol.15
, pp. 61-69
-
-
Hull, K.M.1
Shoham, N.2
Chae, J.J.3
Aksentijevich, I.4
Kastner, D.L.5
-
8
-
-
0032574208
-
Familial Mediterranean fever
-
Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998 351:659 664.
-
(1998)
Lancet
, vol.351
, pp. 659-664
-
-
Ben-Chetrit, E.1
Levy, M.2
-
9
-
-
17744372711
-
Hereditary periodic fever syndromes in Japan
-
Ida H, Eguchi K. Hereditary periodic fever syndromes in Japan. Intern Med 2005 44:177 178.
-
(2005)
Intern Med
, vol.44
, pp. 177-178
-
-
Ida, H.1
Eguchi, K.2
-
10
-
-
0034068191
-
Erysipelas-like erythema of familial Mediterranean fever: Clinicopathologic correlation
-
Barzilai A, Langevitz P, Goldberg I et al. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol 2000 42:791 795.
-
(2000)
J Am Acad Dermatol
, vol.42
, pp. 791-795
-
-
Barzilai, A.1
Langevitz, P.2
Goldberg, I.3
-
11
-
-
0024380232
-
Polyarteritis nodosa and familial Mediterranean fever: A report of 2 cases and review of the literature
-
Glikson M, Galun E, Schlesinger M et al. Polyarteritis nodosa and familial Mediterranean fever: a report of 2 cases and review of the literature. J Rheumatol 1986 16:536 539.
-
(1986)
J Rheumatol
, vol.16
, pp. 536-539
-
-
Glikson, M.1
Galun, E.2
Schlesinger, M.3
-
12
-
-
0031058550
-
Vasculitis in familial Mediterranean fever
-
Ozdogan H, Arisoy N, Kasapcapur O et al. Vasculitis in familial Mediterranean fever. J Rheumatol 1997 24:323 327.
-
(1997)
J Rheumatol
, vol.24
, pp. 323-327
-
-
Ozdogan, H.1
Arisoy, N.2
Kasapcapur, O.3
-
13
-
-
0344011080
-
Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schonlein purpura
-
Gershoni-Baruch R, Broza Y, Brik R. Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schonlein purpura. J Pediatr 2003 143:658 661.
-
(2003)
J Pediatr
, vol.143
, pp. 658-661
-
-
Gershoni-Baruch, R.1
Broza, Y.2
Brik, R.3
-
14
-
-
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
-
-
-
15
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely 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 cause familial Mediterranean fever. Cell 1997 90:797 807.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
16
-
-
0038141040
-
Familial Mediterranean fever (FMF) and renal AA amyloidosis-phenotype- genotype correlation, treatment and prognosis
-
Ben-Chetrit E. Familial Mediterranean fever (FMF) and renal AA amyloidosis-phenotype-genotype correlation, treatment and prognosis. J Nephrol 2003 16:431 434.
-
(2003)
J Nephrol
, vol.16
, pp. 431-434
-
-
Ben-Chetrit, E.1
-
17
-
-
0035914452
-
Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
-
Richards N, Schaner P, Diaz A et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001 276:39320 39329.
-
(2001)
J Biol Chem
, vol.276
, pp. 39320-39329
-
-
Richards, N.1
Schaner, P.2
Diaz, A.3
-
18
-
-
0037436868
-
Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
-
Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 2003 302:575 580.
-
(2003)
Biochem Biophys Res Commun
, vol.302
, pp. 575-580
-
-
Dowds, T.A.1
Masumoto, J.2
Chen, F.F.3
Ogura, Y.4
Inohara, N.5
Nunez, G.6
-
19
-
-
0037349294
-
Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
-
Chae JJ, Komarow H, Cheng J et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003 11:591 604.
-
(2003)
Mol Cell
, vol.11
, pp. 591-604
-
-
Chae, J.J.1
Komarow, H.2
Cheng, J.3
-
20
-
-
30844432876
-
Cryopyrin and pyrin activate caspase-1, but not NF-kappa B, via ASC oligomerization
-
Yu JW, Wu J, Zhang Z et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappa B, via ASC oligomerization. Cell Death Differ 2006 13:236 249.
-
(2006)
Cell Death Differ
, vol.13
, pp. 236-249
-
-
Yu, J.W.1
Wu, J.2
Zhang, Z.3
-
21
-
-
33745631232
-
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
-
Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006 103:9982 9987.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 9982-9987
-
-
Chae, J.J.1
Wood, G.2
Masters, S.L.3
-
22
-
-
2442504883
-
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever
-
Kotone-Miyahara Y, Takaori-Kondo A, Fukunaga K et al. E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. Int J Hematol 2004 79:235 237.
-
(2004)
Int J Hematol
, vol.79
, pp. 235-237
-
-
Kotone-Miyahara, Y.1
Takaori-Kondo, A.2
Fukunaga, K.3
-
23
-
-
0036682956
-
Allogeneic bone marrow transplantation: Cure for familial Mediterranean fever
-
Milledge J, Shaw PJ, Mansour A et al. Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood 2002 100:774 777.
-
(2002)
Blood
, vol.100
, pp. 774-777
-
-
Milledge, J.1
Shaw, P.J.2
Mansour, A.3
-
24
-
-
0021287627
-
Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
-
Van der Meer JW, Vossen JM, Radl J et al. Hyperimmunoglobulinaemia 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
Vossen, J.M.2
Radl, J.3
-
25
-
-
0028044763
-
Cutaneous manifestations and histologic findings in the hyperommunoglobulinemia D syndrome
-
van der
-
Drenth JP, Boom BW, Toonstra J, van der Meer JW. Cutaneous manifestations and histologic findings in the hyperommunoglobulinemia D syndrome. Arch Dermatol 1994 130:59 65.
-
(1994)
Arch Dermatol
, vol.130
, pp. 59-65
-
-
Drenth, J.P.1
Boom, B.W.2
Toonstra, J.3
Meer, J.W.4
-
26
-
-
0026452905
-
Immunological studies in the hyper-immunoglobulin D syndrome
-
De
-
Haraldsson A, Weemaes CM, De Boer AW, Bakkeren JA, Stoelinga GB. Immunological studies in the hyper-immunoglobulin D syndrome. J Clin Immunol 1992 12:424 428.
-
(1992)
J Clin Immunol
, vol.12
, pp. 424-428
-
-
Haraldsson, A.1
Weemaes, C.M.2
Boer, A.W.3
Bakkeren, J.A.4
Stoelinga, G.B.5
-
27
-
-
0027315819
-
Association of hyperimmunoglobulinemia D syndrome with erythema elevatum diutinum
-
Miyagawa S, Kitamura W, Morita K, Saishin M, Shirai T. Association of hyperimmunoglobulinemia D syndrome with erythema elevatum diutinum. Br J Dermatol 1993 128:572 574.
-
(1993)
Br J Dermatol
, vol.128
, pp. 572-574
-
-
Miyagawa, S.1
Kitamura, W.2
Morita, K.3
Saishin, M.4
Shirai, T.5
-
28
-
-
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
-
29
-
-
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
-
30
-
-
0025120211
-
Brown MS. Regulation of the mevalonate pathway
-
Goldstein JL. Brown MS. Regulation of the mevalonate pathway. Nature 1990 343:425 430.
-
(1990)
Nature
, vol.343
, pp. 425-430
-
-
Goldstein, J.L.1
-
31
-
-
0022634509
-
Mevalonic aciduria-an inborn error of cholesterol and nonsterol isoprene biosynthesis
-
Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L. Mevalonic aciduria-an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Eng J Med 1986 314:1610 1614.
-
(1986)
N Eng J Med
, vol.314
, pp. 1610-1614
-
-
Hoffmann, G.1
Gibson, K.M.2
Brandt, I.K.3
Bader, P.I.4
Wappner, R.S.5
Sweetman, L.6
-
32
-
-
0035055571
-
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
-
Cuisset L, Drenth JP, Simon A et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001 9:260 266.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 260-266
-
-
Cuisset, L.1
Drenth, J.P.2
Simon, A.3
-
33
-
-
1842869873
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
-
Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002 11:3115 3124.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3115-3124
-
-
Houten, S.M.1
Frenkel, J.2
Rijkers, G.T.3
Wanders, R.J.4
Kuis, W.5
Waterham, H.R.6
-
34
-
-
0036822810
-
Lack of isoprenoid products raises ex vivo interleukin-1b secretion in hyperimmunoglobulinemia D and periodic fever syndrome
-
Frenkel J, Rijkers GT, Mandey SH et al. Lack of isoprenoid products raises ex vivo interleukin-1b secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002 46:2794 2803.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2794-2803
-
-
Frenkel, J.1
Rijkers, G.T.2
Mandey, S.H.3
-
35
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
van der
-
Simon A, Drewe E, van der Meer JW et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004 75:476 483.
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Meer, J.W.3
-
36
-
-
0023631957
-
Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis
-
Gertz MA, Petitt RM, Perrault J, Kyle RA. Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis. Mayo Clin Proc 1987 62:1095 1100.
-
(1987)
Mayo Clin Proc
, vol.62
, pp. 1095-1100
-
-
Gertz, M.A.1
Petitt, R.M.2
Perrault, J.3
Kyle, R.A.4
-
37
-
-
0030826517
-
Clinical spectrum of familial Hibernian fever: A 14-year follow-up study of the index case and extended family
-
McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997 72:806 817.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 806-817
-
-
McDermott, E.M.1
Smillie, D.M.2
Powell, R.J.3
-
38
-
-
0034535910
-
Tumor necrosis factor receptor-associated periodic syndrome: A novel syndrome with cutaneous manifestations
-
Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol 2000 136:1487 1494.
-
(2000)
Arch Dermatol
, vol.136
, pp. 1487-1494
-
-
Toro, J.R.1
Aksentijevich, I.2
Hull, K.3
Dean, J.4
Kastner, D.L.5
-
39
-
-
4344639904
-
Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS)
-
Lamprecht P, Moosig F, Adam-Klages S et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis 2004 63:1518 1520.
-
(2004)
Ann Rheum Dis
, vol.63
, pp. 1518-1520
-
-
Lamprecht, P.1
Moosig, F.2
Adam-Klages, S.3
-
40
-
-
5444276447
-
A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus
-
Ida H, Kawasaki E, Miyashita T et al. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Rheumatology 2004 43:1292 1299.
-
(2004)
Rheumatology
, vol.43
, pp. 1292-1299
-
-
Ida, H.1
Kawasaki, E.2
Miyashita, T.3
-
41
-
-
33749591893
-
Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis
-
Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K. Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis. Rheumatology 2006 45:1171 1173.
-
(2006)
Rheumatology
, vol.45
, pp. 1171-1173
-
-
Ida, H.1
Aramaki, T.2
Arima, K.3
Origuchi, T.4
Kawakami, A.5
Eguchi, K.6
-
42
-
-
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 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 65:958 960.
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 958-960
-
-
Kallinich, T.1
Haffner, D.2
Rudolph, B.3
-
43
-
-
0034609969
-
Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome
-
Drewe E, McDermott EM, Powell RJ. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med 2000 343:1044 1045.
-
(2000)
N Engl J Med
, vol.343
, pp. 1044-1045
-
-
Drewe, E.1
McDermott, E.M.2
Powell, R.J.3
-
44
-
-
0141564873
-
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
-
Aganna E, Hammond L, Hawkins PN et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003 48:2632 2644.
-
(2003)
Arthritis Rheum
, vol.48
, pp. 2632-2644
-
-
Aganna, E.1
Hammond, L.2
Hawkins, P.N.3
-
45
-
-
4043090739
-
Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: Differences between cell types
-
Huggins ML, Radford PM, Mcintosh RS et al. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. Arthritis Rheum 2004 50:2651 2659.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 2651-2659
-
-
Huggins, M.L.1
Radford, P.M.2
McIntosh, R.S.3
-
46
-
-
33746971927
-
Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function
-
Rebelo SL, Bainbridge SE, Amel-Kashipaz MR et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum 2006 54:2674 2687.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 2674-2687
-
-
Rebelo, S.L.1
Bainbridge, S.E.2
Amel-Kashipaz, M.R.3
-
47
-
-
33747162175
-
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in the TNFR1-associated periodic fever syndrome (TRAPS)
-
Lobito AA, Kimberley FC, Muppidi JR et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in the TNFR1-associated periodic fever syndrome (TRAPS). Blood 2006 108:1320 1327.
-
(2006)
Blood
, vol.108
, pp. 1320-1327
-
-
Lobito, A.A.1
Kimberley, F.C.2
Muppidi, J.R.3
-
48
-
-
3843110981
-
Beneficial response to interleukin 1 receptor antagonist in traps
-
van der
-
Simon A, Bodar EJ, van der Hilst JC et al. Beneficial response to interleukin 1 receptor antagonist in traps. Am J Med 2004 117:208 210.
-
(2004)
Am J Med
, vol.117
, pp. 208-210
-
-
Simon, A.1
Bodar, E.J.2
Hilst, J.C.3
-
49
-
-
0016099616
-
Familial cold urticaria: Clinical findings
-
Doeglas HMG, Bleumink E. Familial cold urticaria: clinical findings. Arch Dermatol 1974 110:382 388.
-
(1974)
Arch Dermatol
, vol.110
, pp. 382-388
-
-
Doeglas, H.M.G.1
Bleumink, E.2
-
50
-
-
73649189052
-
Urticaria, deafness and amyloidosis: A new heredo-family syndrome
-
Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: A new heredo-family syndrome. Q J Med 1962 31:235 248.
-
(1962)
Q J Med
, vol.31
, pp. 235-248
-
-
Muckle, T.J.1
Wells, M.2
-
51
-
-
0023894493
-
A chronic, infantile, neurological, cutaneous and auticular (CINCA) syndrome: A specific entity analysed in 30 patients
-
Prieur AM, Griscelli C, Lampert F et al. A chronic, infantile, neurological, cutaneous and auticular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol 1987 66S:57 68.
-
(1987)
Scand J Rheumatol
, vol.66
, pp. 57-68
-
-
Prieur, A.M.1
Griscelli, C.2
Lampert, F.3
-
52
-
-
0029006759
-
Neonatal onset multisystem inflammatory disease
-
Huttenlocher A, Frieden IJ, Emery H. Neonatal onset multisystem inflammatory disease. J Rheumatol 1995 22:1171 1173.
-
(1995)
J Rheumatol
, vol.22
, pp. 1171-1173
-
-
Huttenlocher, A.1
Frieden, I.J.2
Emery, H.3
-
53
-
-
0035179970
-
Mutations 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, Wanderer AA, Kolodner RD. Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001 29:301 305.
-
(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
-
54
-
-
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
-
55
-
-
12144288979
-
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
-
Neben 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 2815.
-
(2004)
Blood
, vol.103
, pp. 2809-2815
-
-
Neben, B.1
Callebaut, I.2
Prieur, A.M.3
-
56
-
-
0036671894
-
The inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-1beta
-
Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-1beta. Mol Cell 2002 10:417 426.
-
(2002)
Mol Cell
, vol.10
, pp. 417-426
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
57
-
-
1642285783
-
NALP3 forms an IL-1-beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
-
Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1-beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004 20:319 325.
-
(2004)
Immunity
, vol.20
, pp. 319-325
-
-
Agostini, L.1
Martinon, F.2
Burns, K.3
McDermott, M.F.4
Hawkins, P.N.5
Tschopp, J.6
-
58
-
-
33644985564
-
Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1
-
Sutterwala FS, Ogura Y, Szczepanik M et al. Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity 2006 24:317 327.
-
(2006)
Immunity
, vol.24
, pp. 317-327
-
-
Sutterwala, F.S.1
Ogura, Y.2
Szczepanik, M.3
-
59
-
-
8444225132
-
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
-
Hoffman HM, Rosengren S, Boyle DL et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004 364:1779 1785.
-
(2004)
Lancet
, vol.364
, pp. 1779-1785
-
-
Hoffman, H.M.1
Rosengren, S.2
Boyle, D.L.3
-
60
-
-
1042290321
-
Spectrum of clinical features in Muckle-Wells syndrome and response to Anakinra
-
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to Anakinra. Arthritis Rheum 2004 50:607 612.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 607-612
-
-
Hawkins, P.N.1
Lachmann, H.J.2
Aganna, E.3
McDermott, M.F.4
-
61
-
-
4043104941
-
Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease
-
Hawkins PN, Bybee A, Aganna E, McDermott MF. Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum 2004 50:2708 2709.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 2708-2709
-
-
Hawkins, P.N.1
Bybee, A.2
Aganna, E.3
McDermott, M.F.4
-
62
-
-
32944462834
-
Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3
-
Kanneganti TD, Oezoeren N, Body-Malapel M et al. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature 2006 440:233 236.
-
(2006)
Nature
, vol.440
, pp. 233-236
-
-
Kanneganti, T.D.1
Oezoeren, N.2
Body-Malapel, M.3
-
63
-
-
27744440753
-
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome
-
Saito M, Fujisawa A, Nishikomori R et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2005 52:3579 3585.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 3579-3585
-
-
Saito, M.1
Fujisawa, A.2
Nishikomori, R.3
-
64
-
-
0030804743
-
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
-
Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc 1997 72:611 615.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 611-615
-
-
Lindor, N.M.1
Arsenault, T.M.2
Solomon, H.3
Seidman, C.E.4
McEvoy, M.T.5
-
65
-
-
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
-
66
-
-
0037091012
-
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
-
Wise CA, Gillum JD, Seidman CE et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 2002 11:961 969.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 961-969
-
-
Wise, C.A.1
Gillum, J.D.2
Seidman, C.E.3
-
67
-
-
0037169501
-
PSTPIP is a substrate of PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP
-
Cote JF, Chung PL, Theberge JF et al. PSTPIP is a substrate of PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP. J Biol Chem 2002 277:2973 2986.
-
(2002)
J Biol Chem
, vol.277
, pp. 2973-2986
-
-
Cote, J.F.1
Chung, P.L.2
Theberge, J.F.3
-
68
-
-
0035437141
-
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
-
Mansfield E, Chae JJ, Komarow HD et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001 98:851 859.
-
(2001)
Blood
, vol.98
, pp. 851-859
-
-
Mansfield, E.1
Chae, J.J.2
Komarow, H.D.3
-
69
-
-
0344823965
-
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
-
Shoham NG, Centola M, Mansfield E et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Nat Acad Sci USA 2003 100:13501 13506.
-
(2003)
Proc Nat Acad Sci USA
, vol.100
, pp. 13501-13506
-
-
Shoham, N.G.1
Centola, M.2
Mansfield, E.3
-
70
-
-
5444222071
-
A common pathway in periodic fever syndromes
-
McDermott MF. A common pathway in periodic fever syndromes. Trends Immunol 2004 25:457 460.
-
(2004)
Trends Immunol
, vol.25
, pp. 457-460
-
-
McDermott, M.F.1
-
71
-
-
0016696682
-
"streaking leukocyte factor," arthritis, and pyoderma gangrenosum
-
Jacobs JC, Goetzl EJ. "Streaking leukocyte factor," arthritis, and pyoderma gangrenosum. Pediatrics 1975 56:570 578.
-
(1975)
Pediatrics
, vol.56
, pp. 570-578
-
-
Jacobs, J.C.1
Goetzl, E.J.2
-
72
-
-
0020057862
-
Sarcoidosis in young children
-
Hetherington S. Sarcoidosis in young children. Am J Dis Child 1982 136:13 15.
-
(1982)
Am J Dis Child
, vol.136
, pp. 13-15
-
-
Hetherington, S.1
-
73
-
-
0022213722
-
Familial granulomatous arthritis, iritis, and rash
-
Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985 107:689 693.
-
(1985)
J Pediatr
, vol.107
, pp. 689-693
-
-
Blau, E.B.1
-
74
-
-
1842740034
-
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation
-
Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y. Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol 2004 122:851 852.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 851-852
-
-
Kanazawa, N.1
Matsushima, S.2
Kambe, N.3
Tachibana, T.4
Nagai, S.5
Miyachi, Y.6
-
76
-
-
19944431022
-
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappa B activation: Common genetic etiology with Blau syndrome
-
Kanazawa N, Okafuji I, Kambe N et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappa B activation: common genetic etiology with Blau syndrome. Blood 2005 105:1195 1197.
-
(2005)
Blood
, vol.105
, pp. 1195-1197
-
-
Kanazawa, N.1
Okafuji, I.2
Kambe, N.3
-
78
-
-
23044459960
-
The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders
-
Kambe N, Nishikomori R, Kanazawa N. The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders. J Dermatol Sci 2005 39:71 80.
-
(2005)
J Dermatol Sci
, vol.39
, pp. 71-80
-
-
Kambe, N.1
Nishikomori, R.2
Kanazawa, N.3
-
79
-
-
33750345391
-
Pediatric Granulomatous Arthritis: An international registry
-
Rose CD, Wouters CH, Meiorin S et al. Pediatric Granulomatous Arthritis: an international registry. Arthritis Rheum 2006 54:3337 3344.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 3337-3344
-
-
Rose, C.D.1
Wouters, C.H.2
Meiorin, S.3
-
80
-
-
20144382924
-
Peptidoglycan signaling in innate immunity and inflammatory disease
-
McDonald C, Inohara N, Nunez G. Peptidoglycan signaling in innate immunity and inflammatory disease. J Biol Chem 2005 280:20177 20180.
-
(2005)
J Biol Chem
, vol.280
, pp. 20177-20180
-
-
McDonald, C.1
Inohara, N.2
Nunez, G.3
-
82
-
-
0024466508
-
Congenital Dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings
-
Majeed HA, Kalaawi M, Mohanty D et al. Congenital Dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 1989 115:730 734.
-
(1989)
J Pediatr
, vol.115
, pp. 730-734
-
-
Majeed, H.A.1
Kalaawi, M.2
Mohanty, D.3
-
83
-
-
29344448820
-
A missense mutation in pstpip2 in associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
-
Ferguson PJ, Bing X, Vasef MA et al. A missense mutation in pstpip2 in associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 2006 38:41 47.
-
(2006)
Bone
, vol.38
, pp. 41-47
-
-
Ferguson, P.J.1
Bing, X.2
Vasef, M.A.3
-
84
-
-
33645734214
-
Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease
-
Grosse J, Chitu V, Marquardt A et al. Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 2006 107:3350 3358.
-
(2006)
Blood
, vol.107
, pp. 3350-3358
-
-
Grosse, J.1
Chitu, V.2
Marquardt, A.3
-
85
-
-
19644380374
-
The PCH family member MAYP/PSTPIP2 directly regulates F-actin bundling and enhances filopodia formation and motility in macrophages
-
Chitu V, Pixley FJ, Macaluso F et al. The PCH family member MAYP/PSTPIP2 directly regulates F-actin bundling and enhances filopodia formation and motility in macrophages. Mol Biol Cell 2005 16:2947 2959.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 2947-2959
-
-
Chitu, V.1
Pixley, F.J.2
MacAluso, F.3
-
86
-
-
22244469461
-
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
-
Ferguson PJ, Chen S, Tayeh MK et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome). J Med Genet 2005 42:551 557.
-
(2005)
J Med Genet
, vol.42
, pp. 551-557
-
-
Ferguson, P.J.1
Chen, S.2
Tayeh, M.K.3
-
87
-
-
33947137738
-
A splice site mutation confirms the role of LPIN2 in Majeed syndrome
-
Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum 2007 56:960 964.
-
(2007)
Arthritis Rheum
, vol.56
, pp. 960-964
-
-
Al-Mosawi, Z.S.1
Al-Saad, K.K.2
Ijadi-Maghsoodi, R.3
El-Shanti, H.I.4
Ferguson, P.J.5
-
88
-
-
0035163850
-
Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin
-
Peterfy M, Phan J, Xu P, Reue K. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. Nat Genet 2001 27:121 124.
-
(2001)
Nat Genet
, vol.27
, pp. 121-124
-
-
Peterfy, M.1
Phan, J.2
Xu, P.3
Reue, K.4
-
89
-
-
85047695184
-
Chronic recurrent multifocal osteomyelitis (CRMO): Evidence for a susceptibility gene located on chromosome 18q21.3-18q22
-
Golla A, Jansson A, Ramser J et al. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 2002 10:217 221.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 217-221
-
-
Golla, A.1
Jansson, A.2
Ramser, J.3
-
91
-
-
0033185755
-
Behçet's disease, the Silk Road and HLA-B51: Historical and geographical perspective
-
Verity DH, Vaughan RW, Marr JE et al. Behçet's disease, The Silk Road and HLA-B51: historical and geographical perspective. Tissue Antigens 1999 54:213 220.
-
(1999)
Tissue Antigens
, vol.54
, pp. 213-220
-
-
Verity, D.H.1
Vaughan, R.W.2
Marr, J.E.3
-
92
-
-
33644789835
-
Behçet's disease: Familial clustering and immunogenetics
-
Fietta P. Behçet's disease: familial clustering and immunogenetics. Clin Exp Rheumatol 2005 23:S96 S105.
-
(2005)
Clin Exp Rheumatol
, vol.23
-
-
Fietta, P.1
-
93
-
-
0034268002
-
MEFV mutations in Behçet's disease
-
Touitou I, Magne X, Molinari N et al. MEFV mutations in Behçet's disease. Hum Mutat 2000 16:271 272.
-
(2000)
Hum Mutat
, vol.16
, pp. 271-272
-
-
Touitou, I.1
Magne, X.2
Molinari, N.3
-
94
-
-
0035076326
-
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)
-
Livneh A, Aksentijevich I, Langevitz P et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD). Eur J Hum Genet 2001 9:191 196.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 191-196
-
-
Livneh, A.1
Aksentijevich, I.2
Langevitz, P.3
-
95
-
-
13444310437
-
Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease
-
Amoura Z, Dode C, Hue S et al. Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease. Arthritis Rheum 2005 52:608 611.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 608-611
-
-
Amoura, Z.1
Dode, C.2
Hue, S.3
-
96
-
-
34249830128
-
Autoinflammatory gene mutations in Behçet's disease
-
Le
-
Kone-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I. Autoinflammatory gene mutations in Behçet's disease. Ann Rheum Dis 2007 66:832 834.
-
(2007)
Ann Rheum Dis
, vol.66
, pp. 832-834
-
-
Kone-Paut, I.1
Sanchez, E.2
Quellec, A.3
Manna, R.4
Touitou, I.5
-
97
-
-
5444261932
-
Common Crohn's disease-predisposing variants of the CARD15/NOD2 gene are not associated with Behçet's disease in Turkey
-
Uyar FA, Saruhan-Direskeneli G, Gul A. Common Crohn's disease-predisposing variants of the CARD15/NOD2 gene are not associated with Behçet's disease in Turkey. Clin Exp Rheumatol 2004 22:S50 S52.
-
(2004)
Clin Exp Rheumatol
, vol.22
-
-
Uyar, F.A.1
Saruhan-Direskeneli, G.2
Gul, A.3
-
98
-
-
33644807015
-
Behçet's disease and hereditary periodic fever syndromes: Casual association or causal relationship?
-
Espinosa G, Arostegui JI, Plaza S et al. Behçet's disease and hereditary periodic fever syndromes: casual association or causal relationship? Clin Exp Rheumatol 2005 23:S3 S7.
-
(2005)
Clin Exp Rheumatol
, vol.23
-
-
Espinosa, G.1
Arostegui, J.I.2
Plaza, S.3
-
99
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot JP, Chamaillard M, Zouali H et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001 411:599 603.
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
-
100
-
-
0035978533
-
A frameshift mutation in Nod2 associated with susceptibility to Crohn's disease
-
Ogura Y, Bonen DK, Inohara N et al. A frameshift mutation in Nod2 associated with susceptibility to Crohn's disease. Nature 2001 411:603 606.
-
(2001)
Nature
, vol.411
, pp. 603-606
-
-
Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
-
101
-
-
0037452968
-
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases
-
Chamaillard M, Philpott D, Girardin SE et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA 2003 100:3455 3460.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 3455-3460
-
-
Chamaillard, M.1
Philpott, D.2
Girardin, S.E.3
-
102
-
-
1442275001
-
Crohn's disease, mycobacteria, and NOD2
-
Behr MA, Semret M, Poon A, Schurr E. Crohn's disease, mycobacteria, and NOD2. Lancet Infect Dis 2004 4:136 137.
-
(2004)
Lancet Infect Dis
, vol.4
, pp. 136-137
-
-
Behr, M.A.1
Semret, M.2
Poon, A.3
Schurr, E.4
-
103
-
-
22144467996
-
NOD2 mutation and mice: No Crohn's disease but many lessons to learn
-
Wehkamp J, Stange EF. NOD2 mutation and mice: no Crohn's disease but many lessons to learn. Trends Mol Med 2005 11:307 309.
-
(2005)
Trends Mol Med
, vol.11
, pp. 307-309
-
-
Wehkamp, J.1
Stange, E.F.2
-
104
-
-
20444459502
-
NOD2 and Crohn's disease: Loss or gain of function?
-
Eckmann L, Karin M. NOD2 and Crohn's disease: loss or gain of function? Immunity 2005 22:661 667.
-
(2005)
Immunity
, vol.22
, pp. 661-667
-
-
Eckmann, L.1
Karin, M.2
-
105
-
-
33748493563
-
Nucleotide binding oligomerization domain 2 deficiency leads to dysregulated TLR2 signaling and induction of antigen-specific colitis
-
Watanabe T, Kitani A, Murray PJ, Wakatsuki Y, Fuss IJ, Strober W. Nucleotide binding oligomerization domain 2 deficiency leads to dysregulated TLR2 signaling and induction of antigen-specific colitis. Immunity 2006 25:473 485.
-
(2006)
Immunity
, vol.25
, pp. 473-485
-
-
Watanabe, T.1
Kitani, A.2
Murray, P.J.3
Wakatsuki, Y.4
Fuss, I.J.5
Strober, W.6
-
106
-
-
0033542902
-
Quantitative PCR of mycobacterial and propionibacterial DNA in lymph nodes of Japanese patients with sarcoidosis
-
Ishige I, Usui Y, Takemura T, Eishi Y. Quantitative PCR of mycobacterial and propionibacterial DNA in lymph nodes of Japanese patients with sarcoidosis. Lancet 1999 354:120 123.
-
(1999)
Lancet
, vol.354
, pp. 120-123
-
-
Ishige, I.1
Usui, Y.2
Takemura, T.3
Eishi, Y.4
-
107
-
-
0242467576
-
CARD15 gene mutations in sarcoidosis
-
Schurmann M, Valentonyte R, Hampe J, Muller-Quernheim J, Schwinger E, Schreiber S. CARD15 gene mutations in sarcoidosis. Eur Respir J 2003 22:748 754.
-
(2003)
Eur Respir J
, vol.22
, pp. 748-754
-
-
Schurmann, M.1
Valentonyte, R.2
Hampe, J.3
Muller-Quernheim, J.4
Schwinger, E.5
Schreiber, S.6
-
108
-
-
0142257968
-
Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15)
-
Martin TM, Doyle TM, Smith JR, Dinulescu D, Rust K, Rosenbaum JT. Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15). Am J Ophthalmol 2003 136:933 935.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 933-935
-
-
Martin, T.M.1
Doyle, T.M.2
Smith, J.R.3
Dinulescu, D.4
Rust, K.5
Rosenbaum, J.T.6
-
109
-
-
16844383121
-
CARD 15 gene mutations in sarcoidosis
-
Ho LP, Merlin F, Gaber K, Davies RJ, McMichael AJ, Hugot JP. CARD 15 gene mutations in sarcoidosis. Thorax 2005 60:354 355.
-
(2005)
Thorax
, vol.60
, pp. 354-355
-
-
Ho, L.P.1
Merlin, F.2
Gaber, K.3
Davies, R.J.4
McMichael, A.J.5
Hugot, J.P.6
-
110
-
-
33745465453
-
CARD15 single nucleotide polymorphisms 8, 12 and 13 are not increased in ethnic Danes with sarcoidosis
-
Milman N, Nielsen OH, Hviid TV, Fenger K. CARD15 single nucleotide polymorphisms 8, 12 and 13 are not increased in ethnic Danes with sarcoidosis. Respiration 2007 74:76 79.
-
(2007)
Respiration
, vol.74
, pp. 76-79
-
-
Milman, N.1
Nielsen, O.H.2
Hviid, T.V.3
Fenger, K.4
-
111
-
-
33747497092
-
CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis
-
Gazouli M, Koundourakis A, Ikonomopoulos J et al. CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2006 23:23 29.
-
(2006)
Sarcoidosis Vasc Diffuse Lung Dis
, vol.23
, pp. 23-29
-
-
Gazouli, M.1
Koundourakis, A.2
Ikonomopoulos, J.3
-
112
-
-
0036306951
-
Lack of common NOD2 variants in Japanese patients with Crohn's disease
-
Inoue N, Tamura K, Kinouchi Y et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002 123:86 91.
-
(2002)
Gastroenterology
, vol.123
, pp. 86-91
-
-
Inoue, N.1
Tamura, K.2
Kinouchi, Y.3
-
113
-
-
0036373539
-
Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease
-
Yamazaki K, Takazoe M, Tanaka T, Kazumori T, Nakamura Y. Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 2002 47:469 472.
-
(2002)
J Hum Genet
, vol.47
, pp. 469-472
-
-
Yamazaki, K.1
Takazoe, M.2
Tanaka, T.3
Kazumori, T.4
Nakamura, Y.5
-
114
-
-
33748748044
-
Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes
-
Tanabe T, Ishige I, Suzuki Y et al. Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes. Biochim Biophys Acta 2006 1762:794 801.
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 794-801
-
-
Tanabe, T.1
Ishige, I.2
Suzuki, Y.3
-
115
-
-
19744366535
-
Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease
-
McGovern DP, Hysi P, Ahmad T et al. Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease. Hum Mol Genet 2005 14:1245 1250.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1245-1250
-
-
McGovern, D.P.1
Hysi, P.2
Ahmad, T.3
-
116
-
-
33744812482
-
NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease
-
Ozen SC, Dagli U, Kilic MY et al. NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease. J Gastroenterol 2006 41:304 310.
-
(2006)
J Gastroenterol
, vol.41
, pp. 304-310
-
-
Ozen, S.C.1
Dagli, U.2
Kilic, M.Y.3
-
117
-
-
33749324435
-
Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panel
-
Tremelling M, Hancock L, Bredin F, Sharpstone D, Bingham SA, Parkes M. Complex insertion/deletion polymorphism in NOD1 (CARD4) is not associated with inflammatory bowel disease susceptibility in East Anglia panel. Inflamm Bowel Dis 2006 12:967 971.
-
(2006)
Inflamm Bowel Dis
, vol.12
, pp. 967-971
-
-
Tremelling, M.1
Hancock, L.2
Bredin, F.3
Sharpstone, D.4
Bingham, S.A.5
Parkes, M.6
-
118
-
-
34547620484
-
Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe
-
Van Limbergen J, Russell RK, Nimmo ER et al. Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe. Inflamm Bowel Dis 2007 13:882 889.
-
(2007)
Inflamm Bowel Dis
, vol.13
, pp. 882-889
-
-
Van Limbergen, J.1
Russell, R.K.2
Nimmo, E.R.3
-
119
-
-
0025324698
-
Increased occurrence of psoriasis in patients with Crohn's disease and their relatives
-
Lee FI, Bellary SV, Francis C. Increased occurrence of psoriasis in patients with Crohn's disease and their relatives. Am J Gastroenterol 1990 85:962 963.
-
(1990)
Am J Gastroenterol
, vol.85
, pp. 962-963
-
-
Lee, F.I.1
Bellary, S.V.2
Francis, C.3
-
120
-
-
0343410359
-
Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan
-
Nair RP, Henseler T, Jenisch S et al. Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 1997 6:1349 1356.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1349-1356
-
-
Nair, R.P.1
Henseler, T.2
Jenisch, S.3
-
121
-
-
0035674155
-
Lack of association between NOD2 3020InsC frameshift mutation and psoriasis
-
Nair RP, Stuart P, Ogura Y et al. Lack of association between NOD2 3020InsC frameshift mutation and psoriasis. J Invest Dermatol 2001 117:1671 1672.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1671-1672
-
-
Nair, R.P.1
Stuart, P.2
Ogura, Y.3
-
122
-
-
0036861693
-
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
-
Borgiani P, Vallo L, D'Apice MR et al. Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol 2002 12:540 542.
-
(2002)
Eur J Dermatol
, vol.12
, pp. 540-542
-
-
Borgiani, P.1
Vallo, L.2
D'Apice, M.R.3
-
123
-
-
12444336910
-
A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis
-
Young C, Allen MH, Cuthbert A et al. A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis. Exp Dermatol 2003 12:506 509.
-
(2003)
Exp Dermatol
, vol.12
, pp. 506-509
-
-
Young, C.1
Allen, M.H.2
Cuthbert, A.3
-
124
-
-
4944242447
-
CARD15/NOD2 single nucleotide polymorphisms do not confer susceptibility to type I psoriasis
-
Plant D, Lear J, Marsland A, Worthington J, Griffiths CE. CARD15/NOD2 single nucleotide polymorphisms do not confer susceptibility to type I psoriasis. Br J Dermatol 2004 151:675 678.
-
(2004)
Br J Dermatol
, vol.151
, pp. 675-678
-
-
Plant, D.1
Lear, J.2
Marsland, A.3
Worthington, J.4
Griffiths, C.E.5
-
125
-
-
0037219893
-
A susceptibility gene for psoriatic arthritis maps to chromosome 16q: Evidence for imprinting
-
Karason A, Gudjonsson JE, Upmanyu R et al. A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting. Am J Hum Genet 2003 72:125 131.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 125-131
-
-
Karason, A.1
Gudjonsson, J.E.2
Upmanyu, R.3
-
126
-
-
0041885442
-
CARD15: A pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis.
-
Rahmen P, Bartlett S, Siannis F et al. CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 2003 73:677 681.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 677-681
-
-
Rahmen, P.1
Bartlett, S.2
Siannis, F.3
-
127
-
-
2442516014
-
Psoriatic arthritis and CARD15 gene polymorphisms: No evidence for association in the Italian population
-
Giardina E, Novelli G, Costanzo A et al. Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population. J Invest Dermatol 2004 122:1106 1107.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 1106-1107
-
-
Giardina, E.1
Novelli, G.2
Costanzo, A.3
-
128
-
-
21144457073
-
Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort
-
Lascorz J, Burkhardt H, Huffmeier U et al. Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort. Ann Rheum Dis 2005 64:951 954.
-
(2005)
Ann Rheum Dis
, vol.64
, pp. 951-954
-
-
Lascorz, J.1
Burkhardt, H.2
Huffmeier, U.3
-
129
-
-
27744474369
-
Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis
-
Ho P, Bruce IN, Silman A et al. Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. Arthritis Rheum 2005 52:3596 3602.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 3596-3602
-
-
Ho, P.1
Bruce, I.N.2
Silman, A.3
-
130
-
-
33344478996
-
CARD15 mutations in patients with plaque-type psoriasis and psoriatic arthritis: Lack of association
-
Jenisch S, Hampe J, Elder JT et al. CARD15 mutations in patients with plaque-type psoriasis and psoriatic arthritis: lack of association. Arch Dermatol Res 2006 297:409 411.
-
(2006)
Arch Dermatol Res
, vol.297
, pp. 409-411
-
-
Jenisch, S.1
Hampe, J.2
Elder, J.T.3
-
131
-
-
33745465017
-
NOD2: Ethnic and geographic differences
-
Cavanaugh J. NOD2: ethnic and geographic differences. World J Gastroenterol 2006 12:3673 3677.
-
(2006)
World J Gastroenterol
, vol.12
, pp. 3673-3677
-
-
Cavanaugh, J.1
-
132
-
-
0037393553
-
Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations
-
von
-
Kabesch M, Peters W, Carr D, Leupold W, Weiland SK, von Mutius E. Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations. J Allergy Clin Immunol 2003 111:813 817.
-
(2003)
J Allergy Clin Immunol
, vol.111
, pp. 813-817
-
-
Kabesch, M.1
Peters, W.2
Carr, D.3
Leupold, W.4
Weiland, S.K.5
Mutius, E.6
-
133
-
-
22744450775
-
Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults
-
Weidinger S, Klopp N, Rummler L et al. Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults. Clin Exp Allergy 2005 35:866 872.
-
(2005)
Clin Exp Allergy
, vol.35
, pp. 866-872
-
-
Weidinger, S.1
Klopp, N.2
Rummler, L.3
-
134
-
-
4444253690
-
NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses
-
Watanabe T, Kitani A, Murray PJ, Strober W. NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol 2004 5:800 808.
-
(2004)
Nat Immunol
, vol.5
, pp. 800-808
-
-
Watanabe, T.1
Kitani, A.2
Murray, P.J.3
Strober, W.4
-
135
-
-
20244364812
-
NOD1 variation, immunoglobulin e and asthma
-
Hysi P, Kabesch M, Moffatt MF et al. NOD1 variation, immunoglobulin E and asthma. Hum Mol Genet 2005 14:935 941.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 935-941
-
-
Hysi, P.1
Kabesch, M.2
Moffatt, M.F.3
-
136
-
-
21344448610
-
Association of NOD1 polymorphisms with atopic eczema and related phenotypes
-
Weidinger S, Klopp N, Rummler L et al. Association of NOD1 polymorphisms with atopic eczema and related phenotypes. J Allergy Clin Immunol 2005 116:177 184.
-
(2005)
J Allergy Clin Immunol
, vol.116
, pp. 177-184
-
-
Weidinger, S.1
Klopp, N.2
Rummler, L.3
-
137
-
-
33847287323
-
Juvenile idiopathic arthritis
-
Ravelli A, Martini A. Juvenile idiopathic arthritis. Lancet 2007 369:767 778.
-
(2007)
Lancet
, vol.369
, pp. 767-778
-
-
Ravelli, A.1
Martini, A.2
-
138
-
-
18644385243
-
Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade
-
Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005 201:1479 1486.
-
(2005)
J Exp Med.
, vol.201
, pp. 1479-1486
-
-
Pascual, V.1
Allantaz, F.2
Arce, E.3
Punaro, M.4
Banchereau, J.5
-
139
-
-
0032189103
-
The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis
-
Fishman D, Faulds G, Jeffery R. The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998 102:1369 1376.
-
(1998)
J Clin Invest
, vol.102
, pp. 1369-1376
-
-
Fishman, D.1
Faulds, G.2
Jeffery, R.3
-
140
-
-
0036746062
-
Mutation screening of the macrophage migration inhibitory factor gene: Positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis
-
De
-
Donn R, Alourfi Z, De Benedetti F et al. Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis. Arthritis Rheum 2002 46:2402 2409.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2402-2409
-
-
Donn, R.1
Alourfi, Z.2
Benedetti, F.3
-
141
-
-
0038708312
-
Functional and prognostic relevance of the-173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis
-
De Benedetti F, Meazza C, Vivarelli M et al. Functional and prognostic relevance of the-173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis. Arthritis Rheum 2003 48:1398 1407.
-
(2003)
Arthritis Rheum
, vol.48
, pp. 1398-1407
-
-
De Benedetti, F.1
Meazza, C.2
Vivarelli, M.3
-
142
-
-
0036858044
-
Schnitzler's syndrome with IgG kappa gammopathy
-
Akimoto R, Yoshida M, Matsuda R, Miyasaka K, Itoh M. Schnitzler's syndrome with IgG kappa gammopathy. J Dermatol 2002 29:735 738.
-
(2002)
J Dermatol
, vol.29
, pp. 735-738
-
-
Akimoto, R.1
Yoshida, M.2
Matsuda, R.3
Miyasaka, K.4
Itoh, M.5
-
143
-
-
22244467732
-
Successful treatment of refractory Schnitzler syndrome with anakinra: Comment on the article by Hawkins et al
-
Martinez-Taboada VM, Fontalba A, Blanco R, Fernandez-Luna JL. Successful treatment of refractory Schnitzler syndrome with anakinra: comment on the article by Hawkins et al. Arthritis Rheum 2005 52:2226 2227.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 2226-2227
-
-
Martinez-Taboada, V.M.1
Fontalba, A.2
Blanco, R.3
Fernandez-Luna, J.L.4
-
144
-
-
33645119818
-
Beneficial response to anakinra and thalidomide in Schnitzler's syndrome
-
van der. van der
-
De Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW. Beneficial response to anakinra and thalidomide in Schnitzler's syndrome. Ann Rheum Dis 2006 65:542 544.
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 542-544
-
-
De Koning, H.D.1
Bodar, E.J.2
Simon, A.3
Hilst, J.C.4
Netea, M.G.5
Meer, J.W.6
-
145
-
-
33748473020
-
Schnitzler syndrome associated with systemic marginal zone B-cell lymphoma
-
Dalle S, Balme B, Sebban C, Pariset C, Berger F, Thomas L. Schnitzler syndrome associated with systemic marginal zone B-cell lymphoma. Br J Dermatol 2006 155:827 829.
-
(2006)
Br J Dermatol
, vol.155
, pp. 827-829
-
-
Dalle, S.1
Balme, B.2
Sebban, C.3
Pariset, C.4
Berger, F.5
Thomas, L.6
-
146
-
-
34247391948
-
Schnitzler syndrome: A case report of successful treatment using the anti-CD20 monoclonal antibody rituximab
-
Ramadan KM, Eswedi HA, El-Agnaf MR. Schnitzler syndrome: a case report of successful treatment using the anti-CD20 monoclonal antibody rituximab. Br J Dermatol 2007 156:1072 1074.
-
(2007)
Br J Dermatol
, vol.156
, pp. 1072-1074
-
-
Ramadan, K.M.1
Eswedi, H.A.2
El-Agnaf, M.R.3
-
147
-
-
33344476398
-
CATERPILLERs, pyrin and hereditary immunological disorders
-
Ting JP, Kastner DL, Hoffman HM. CATERPILLERs, pyrin and hereditary immunological disorders. Nat Rev Immunol 2006 6:183 195.
-
(2006)
Nat Rev Immunol
, vol.6
, pp. 183-195
-
-
Ting, J.P.1
Kastner, D.L.2
Hoffman, H.M.3
-
148
-
-
17644366913
-
NOD-LRR proteins: Role in host-microbial interactions and inflammatory disease
-
Inohara N, Chamaillard M, McDonald C, Nunez G. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease. Annu Rev Biochem 2005 74:355 383.
-
(2005)
Annu Rev Biochem
, vol.74
, pp. 355-383
-
-
Inohara, N.1
Chamaillard, M.2
McDonald, C.3
Nunez, G.4
-
149
-
-
22444433175
-
NLRs join TLRs as innate sensors of pathogens
-
Martinon F, Tschopp J. NLRs join TLRs as innate sensors of pathogens. Trends Immunol 2005 26:447 454.
-
(2005)
Trends Immunol
, vol.26
, pp. 447-454
-
-
Martinon, F.1
Tschopp, J.2
-
150
-
-
33947497237
-
NALP1 in vitiligo-associated multiple autoimmune disease
-
Jin Y, Mailloux CM, Gowan K et al. NALP1 in vitiligo-associated multiple autoimmune disease. N Eng J Med 2007 356:1216 1225.
-
(2007)
N Eng J Med
, vol.356
, pp. 1216-1225
-
-
Jin, Y.1
Mailloux, C.M.2
Gowan, K.3
|