-
1
-
-
67650736238
-
Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
-
2-s2.0-67650736238 10.1146/annurev.immunol.25.022106.141627
-
Masters S. L., Simon A., Aksentijevich I., Kastner D. L., Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annual Review of Immunology 2009 27 621 668 2-s2.0-67650736238 10.1146/annurev.immunol.25.022106.141627
-
(2009)
Annual Review of Immunology
, vol.27
, pp. 621-668
-
-
Masters, S.L.1
Simon, A.2
Aksentijevich, I.3
Kastner, D.L.4
-
2
-
-
58049202273
-
Inflammasomes: Guardians of cytosolic sanctity
-
2-s2.0-58049202273 10.1111/j.1600-065X.2008.00730.x
-
Lamkanfi M., Dixit V. M., Inflammasomes: guardians of cytosolic sanctity. Immunological Reviews 2009 227 1 95 105 2-s2.0-58049202273 10.1111/j.1600-065X. 2008.00730.x
-
(2009)
Immunological Reviews
, vol.227
, Issue.1
, pp. 95-105
-
-
Lamkanfi, M.1
Dixit, V.M.2
-
3
-
-
84881503457
-
From the Mediterranean to the sea of Japan: The transcontinental odyssey of autoinflammatory diseases
-
485103 10.1155/2013/485103
-
Rigante D., Frediani B., Galeazzi M., Cantarini L., From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases. BioMed Research International 2013 2013 8 485103 10.1155/2013/485103
-
(2013)
BioMed Research International
, vol.2013
, pp. 8
-
-
Rigante, D.1
Frediani, B.2
Galeazzi, M.3
Cantarini, L.4
-
4
-
-
84869504451
-
Inflammasomes and their roles in health and disease
-
10.1146/annurev-cellbio-101011-155745
-
Lamkanfi M., Dixit V. M., Inflammasomes and their roles in health and disease. Annual Review of Cell and Developmental Biology 2012 28 137 161 10.1146/annurev-cellbio-101011-155745
-
(2012)
Annual Review of Cell and Developmental Biology
, vol.28
, pp. 137-161
-
-
Lamkanfi, M.1
Dixit, V.M.2
-
5
-
-
84857500409
-
The fresco of autoinflammatory diseases from the pediatric perspective
-
2-s2.0-84857500409 10.1016/j.autrev.2011.10.008
-
Rigante D., The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmunity Reviews 2012 11 5 348 356 2-s2.0-84857500409 10.1016/j.autrev.2011.10.008
-
(2012)
Autoimmunity Reviews
, vol.11
, Issue.5
, pp. 348-356
-
-
Rigante, D.1
-
6
-
-
79960581009
-
The laboratory approach in the diagnosis of systemic autoinflammatory diseases
-
2-s2.0-79960581009
-
Cantarini L., Rigante D., Brizi M. G., Sebastiani G. D., Lucherini O. M., Galeazzi M., Frediani B., The laboratory approach in the diagnosis of systemic autoinflammatory diseases. Reumatismo 2011 63 2 101 110 2-s2.0-79960581009
-
(2011)
Reumatismo
, vol.63
, Issue.2
, pp. 101-110
-
-
Cantarini, L.1
Rigante, D.2
Brizi, M.G.3
Sebastiani, G.D.4
Lucherini, O.M.5
Galeazzi, M.6
Frediani, B.7
-
7
-
-
78049387465
-
Familial Mediterranean fever diagnosed in an elderly patient
-
2-s2.0-78049387465
-
Cantarini L., Capecchi P. L., Lucherini O. M., Laghi Pasini F., Galeazzi M., Familial Mediterranean fever diagnosed in an elderly patient. Clinical and Experimental Rheumatology 2010 28 4 S91 2-s2.0-78049387465
-
(2010)
Clinical and Experimental Rheumatology
, vol.28
, Issue.4
-
-
Cantarini, L.1
Capecchi, P.L.2
Lucherini, O.M.3
Laghi Pasini, F.4
Galeazzi, M.5
-
8
-
-
14744296180
-
Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: Analysis of 401 cases
-
DOI 10.1111/j.1742-1241.2004.00294.x
-
Sayarlioglu M., Cefle A., Inanc M., Kamali S., Dalkilic E., Gul A., Ocal L., Aral O., Konice M., Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. International Journal of Clinical Practice 2005 59 2 202 205 2-s2.0-14744296180 10.1111/j.1742-1241.2004. 00294.x (Pubitemid 40331221)
-
(2005)
International Journal of Clinical Practice
, vol.59
, Issue.2
, pp. 202-205
-
-
Sayarlioglu, M.1
Cefle, A.2
Inanc, M.3
Kamali, S.4
Dalkilic, E.5
Gul, A.6
Ocal, L.7
Aral, O.8
Konice, M.9
-
9
-
-
79953000253
-
Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders
-
2-s2.0-79953000253
-
Cantarini L., Lucherini O. M., Iacoponi F., Cimaz R., Simonini G., Rigante D., Laghi Pasini F., Baldari C. T., Capecchi P. L., Brizi M. G., Galeazzi M., Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. International journal of immunopathology and pharmacology 2010 23 4 1133 1141 2-s2.0-79953000253
-
(2010)
International Journal of Immunopathology and Pharmacology
, vol.23
, Issue.4
, pp. 1133-1141
-
-
Cantarini, L.1
Lucherini, O.M.2
Iacoponi, F.3
Cimaz, R.4
Simonini, G.5
Rigante, D.6
Laghi Pasini, F.7
Baldari, C.T.8
Capecchi, P.L.9
Brizi, M.G.10
Galeazzi, M.11
-
10
-
-
79953000253
-
Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders
-
2-s2.0-79953000253
-
Cantarini L., Lucherini O. M., Iacoponi F., Cimaz R., Simonini G., Rigante D., Laghi Pasini F., Baldari C. T., Capecchi P. L., Brizi M. G., Galeazzi M., Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. International journal of immunopathology and pharmacology 2010 23 4 1133 1141 2-s2.0-79953000253
-
(2010)
International Journal of Immunopathology and Pharmacology
, vol.23
, Issue.4
, pp. 1133-1141
-
-
Cantarini, L.1
Lucherini, O.M.2
Iacoponi, F.3
Cimaz, R.4
Simonini, G.5
Rigante, D.6
Laghi Pasini, F.7
Baldari, C.T.8
Capecchi, P.L.9
Brizi, M.G.10
Galeazzi, M.11
-
11
-
-
80055113996
-
Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults
-
2-s2.0-80055113996
-
Cantarini L., Iacoponi F., Lucherini O. M., Obici L., Brizi M. G., Cimaz R., Rigante D., Benucci M., Sebastiani G. D., Brucato A., Sabadini L., Simonini G., Giani T., Laghi Pasini F., Baldari C. T., Bellisai F., Valentini G., Bombardieri S., Paolazzi G., Galeazzi M., Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. International Journal of Immunopathology and Pharmacology 2011 24 3 695 702 2-s2.0-80055113996
-
(2011)
International Journal of Immunopathology and Pharmacology
, vol.24
, Issue.3
, pp. 695-702
-
-
Cantarini, L.1
Iacoponi, F.2
Lucherini, O.M.3
Obici, L.4
Brizi, M.G.5
Cimaz, R.6
Rigante, D.7
Benucci, M.8
Sebastiani, G.D.9
Brucato, A.10
Sabadini, L.11
Simonini, G.12
Giani, T.13
Laghi Pasini, F.14
Baldari, C.T.15
Bellisai, F.16
Valentini, G.17
Bombardieri, S.18
Paolazzi, G.19
Galeazzi, M.20
more..
-
12
-
-
84866840443
-
Amyloidosis in autoinflammatory syndromes
-
10.1016/j.autrev.2012.07.016
-
Obici L., Merlini G., Amyloidosis in autoinflammatory syndromes. Autoimmun 2012 12 1 14 17 10.1016/j.autrev.2012.07.016
-
(2012)
Autoimmun
, vol.12
, Issue.1
, pp. 14-17
-
-
Obici, L.1
Merlini, G.2
-
13
-
-
33748574940
-
The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever
-
Rigante D., La Torraca I., Avallone L., Pugliese A. L., Gaspari S., Stabile A., The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever. European Review for Medical and Pharmacological Sciences 2006 10 4 173 178 2-s2.0-33748574940 (Pubitemid 44468941)
-
(2006)
European Review for Medical and Pharmacological Sciences
, vol.10
, Issue.4
, pp. 173-178
-
-
Rigante, D.1
La Torraca, I.2
Avallone, L.3
Pugliese, A.L.4
Gaspari, S.5
Stabile, A.6
-
14
-
-
84875963811
-
Treatment of autoinflammatory diseases: Results from the Eurofever Registry and a literature review
-
Ter H. N., Lachmann H., Özen S., Woo P., Uziel Y., Modesto C., Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Annals of the Rheumatic Diseases 2013 72 5 678 685
-
(2013)
Annals of the Rheumatic Diseases
, vol.72
, Issue.5
, pp. 678-685
-
-
Ter, H.N.1
Lachmann, H.2
Özen, S.3
Woo, P.4
Uziel, Y.5
Modesto, C.6
-
15
-
-
35549004467
-
Familial mediterranean fever: Clinical, molecular and management advancements
-
Lidar M., Livneh A., Familial mediterranean fever: clinical, molecular and management advancements. Netherlands Journal of Medicine 2007 65 9 318 324 2-s2.0-35549004467 (Pubitemid 350011355)
-
(2007)
Netherlands Journal of Medicine
, vol.65
, Issue.9
, pp. 318-324
-
-
Lidar, M.1
Livneh, A.2
-
16
-
-
44849122715
-
The infevers autoinflammatory mutation online registry: Update with new genes and functions
-
DOI 10.1002/humu.20720
-
Milhavet F., Cuisset L., Hoffman H. M., Slim R., El-Shanti H., Aksentijevich I., Lesage S., Waterham H., Wise C., De Menthiere C. S., Touitou I., The infevers autoinflammatory mutation online registry: update with new genes and functions. Human Mutation 2008 29 6 803 808 2-s2.0-44849122715 10.1002/humu.20720 (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 Menthiere, C.S.10
Touitou, I.11
-
17
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
DOI 10.1038/ng0997-25
-
French FMF Consortium, A candidate gene for familial Mediterranean fever. Nature Genetics 1997 17 25 31 10.1038/ng0997-25 (Pubitemid 27377528)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, pp. 25-31
-
-
Bernot, A.1
Clepet, C.2
Dasilva, C.3
Devaud, C.4
Petit, J.-L.5
Caloustian, C.6
Cruaud, C.7
Samson, D.8
Pulcini, F.9
Weissenbach, J.10
Heilig, R.11
Notanicola, C.12
Domingo, C.13
Rozenbaum, M.14
Benchetrit, E.15
Topaloglu, R.16
Dewalle, M.17
Dross, C.18
Hadjari, P.19
Dupant, M.20
Demaille, J.21
Touitou, I.22
Smaoui, N.23
Nedelec, B.24
Mery, J.-P.25
Chaabouni, H.26
Delpech, M.27
Grateau, G.28
more..
-
18
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
DOI 10.1016/S0092-8674(00)80539-5
-
Aksentijevich I., Centola M., Deng Z., Sood R., Balow J.E. J., Wood G., Zaks N., Mansfield E., Chen X., Eisenberg S., Vedula A., Shafran N., Raben N., Pras E., Pras M., Kastner D. L., Blake T., Baxevanis A. D., Robbins C., Krizman D., Collins F. S., Liu P. P., Chen X., Shohat M., Hamon M., Kahan T., Cercek A., Rotter J. I., Fischel-Ghodsian N., Richards N., Shelton D. A., Gumucio D., Yokoyama Y., Mangelsdorf M., Orsborn A., Richards R. I., Ricke D. O., Buckingham J. M., Moyzis R. K., Deaven L. L., Doggett N. A., Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997 90 4 797 807 2-s2.0-0030745449 10.1016/S0092-8674(00)80539-5 (Pubitemid 27357970)
-
(1997)
Cell
, vol.90
, Issue.4
, pp. 797-807
-
-
Aksentijevich, I.1
Centola, M.2
Deng, Z.3
Sood, R.4
Balow Jr., J.E.5
Wood, G.6
Zaks, N.7
Mansfield, E.8
Chen, X.9
Eisenberg, S.10
Vedula, A.11
Shafran, N.12
Raben, N.13
Pras, E.14
Pras, M.15
Kastner, D.L.16
Blake, T.17
Baxevanis, A.D.18
Robbins, C.19
Krizman, D.20
Collins, F.S.21
Liu, P.P.22
Chen, X.23
Shohat, M.24
Hamon, M.25
Kahan, T.26
Cercek, A.27
Rotter, J.I.28
Fischel-Ghodsian, N.29
Richards, N.30
Shelton, D.A.31
Gumucio, D.32
Yokoyama, Y.33
Mangelsdorf, M.34
Orsborn, A.35
Richards, R.I.36
Ricke, D.O.37
Buckingham, J.M.38
Moyzis, R.K.39
Deaven, L.L.40
Doggett, N.A.41
more..
-
19
-
-
80054853851
-
The regulation of MEFV expression and its role in health and familial Mediterranean fever
-
2-s2.0-80054853851 10.1038/gene.2011.53
-
Grandemange S., Aksentijevich I., Jeru I., Gul A., Touitou I., The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes and Immunity 2011 12 7 497 503 2-s2.0-80054853851 10.1038/gene.2011.53
-
(2011)
Genes and Immunity
, vol.12
, Issue.7
, pp. 497-503
-
-
Grandemange, S.1
Aksentijevich, I.2
Jeru, I.3
Gul, A.4
Touitou, I.5
-
20
-
-
52649104806
-
The Familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF- B through its N-terminal fragment
-
2-s2.0-52649104806 10.1182/blood-2008-01-134932
-
Chae J. J., Wood G., Richard K., Jaffe H., Colburn N. T., Masters S. L., Gumucio D. L., Shoham N. G., Kastner D. L., The Familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF- B through its N-terminal fragment. Blood 2008 112 5 1794 1803 2-s2.0-52649104806 10.1182/blood-2008-01-134932
-
(2008)
Blood
, vol.112
, Issue.5
, pp. 1794-1803
-
-
Chae, J.J.1
Wood, G.2
Richard, K.3
Jaffe, H.4
Colburn, N.T.5
Masters, S.L.6
Gumucio, D.L.7
Shoham, N.G.8
Kastner, D.L.9
-
21
-
-
70349774428
-
Familial mediterranean fever in the world
-
2-s2.0-70349774428 10.1002/art.24458
-
Ben-Chetrit E., Touitou I., Familial mediterranean fever in the world. Arthritis Care and Research 2009 61 10 1447 1453 2-s2.0-70349774428 10.1002/art.24458
-
(2009)
Arthritis Care and Research
, vol.61
, Issue.10
, pp. 1447-1453
-
-
Ben-Chetrit, E.1
Touitou, I.2
-
22
-
-
84873273172
-
FMF - Clinical features, new treatments and the role of genetic modifiers: A critical digest of the 2010-2012 literature
-
Berkun Y., Eisenstein E., Ben-Chetrit E., FMF-clinical features, new treatments and the role of genetic modifiers: a critical digest of the 2010-2012 literature. Clinical and Experimental Rheumatology 2012 30 S90 S95
-
(2012)
Clinical and Experimental Rheumatology
, vol.30
-
-
Berkun, Y.1
Eisenstein, E.2
Ben-Chetrit, E.3
-
23
-
-
84865085470
-
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient
-
2-s2.0-80053993426 10.1111/j.1399-0004.2011.01785.x
-
Camus D., Shinar Y., Aamar S., Langevitz P., Ben-Zvi I., Livneh A., Lidar M., 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clinical Genetics 2012 82 288 291 2-s2.0-80053993426 10.1111/j.1399-0004.2011.01785.x
-
(2012)
Clinical Genetics
, vol.82
, pp. 288-291
-
-
Camus, D.1
Shinar, Y.2
Aamar, S.3
Langevitz, P.4
Ben-Zvi, I.5
Livneh, A.6
Lidar, M.7
-
24
-
-
33744774485
-
The prodrome: A prominent yet overlooked pre-attack manifestation of familial Mediterranean fever
-
Lidar M., Yaqubov M., Zaks N., Ben-Horin S., Langevitz P., Livneh A., The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. Journal of Rheumatology 2006 33 6 1089 1092 2-s2.0-33744774485 (Pubitemid 43825457)
-
(2006)
Journal of Rheumatology
, vol.33
, Issue.6
, pp. 1089-1092
-
-
Lidar, M.1
Yaqubov, M.2
Zaks, N.3
Ben-Horin, S.4
Langevitz, P.5
Livneh, A.6
-
25
-
-
0343776129
-
The acute scrotum in Arab children with familial Mediterranean fever
-
Majeed H. A., Shahin H. M., Ghandour K., The acute scrotum in Arab children with familial Mediterranean fever. Pediatric Surgery International 2000 16 1-2 72 74 2-s2.0-0343776129 (Pubitemid 30156693)
-
(2000)
Pediatric Surgery International
, vol.16
, Issue.1-2
, pp. 72-74
-
-
Majeed, H.A.1
Shahin, H.M.2
Ghandour, K.3
-
26
-
-
84872345132
-
Erysipelas-like erythema as a cutaneous sign of familial Mediterranean fever: A case report and review of the histopathologic findings
-
10.1016/j.jaad.2012.09.038
-
Radakovic S., Holzer G., Tanew A., Erysipelas-like erythema as a cutaneous sign of familial Mediterranean fever: a case report and review of the histopathologic findings. Journal of the American Academy of Dermatology 2013 68 2 e61 e63 10.1016/j.jaad.2012.09.038
-
(2013)
Journal of the American Academy of Dermatology
, vol.68
, Issue.2
-
-
Radakovic, S.1
Holzer, G.2
Tanew, A.3
-
27
-
-
84887481562
-
-
Annals of the Rheumatic Diseases. In press
-
Ozen S., Demirkaya E., Amaryan G., Koné-Paut I., Polat A., Woo P., Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Annals of the Rheumatic Diseases. In press
-
Results from A Multicentre International Registry of Familial Mediterranean Fever: Impact of Environment on the Expression of A Monogenic Disease in Children
-
-
Ozen, S.1
Demirkaya, E.2
Amaryan, G.3
Koné-Paut, I.4
Polat, A.5
Woo, P.6
-
28
-
-
78349265395
-
Protracted febrile myalgia syndrome in familial Mediterranean fever
-
2-s2.0-78349265395 10.1007/s10165-010-0288-4
-
Senel K., Melikoglu M. A., Baykal T., Melikoglu M., Erdal A., Ugur M., Protracted febrile myalgia syndrome in familial Mediterranean fever. Modern Rheumatology 2010 20 4 410 412 2-s2.0-78349265395 10.1007/s10165-010-0288-4
-
(2010)
Modern Rheumatology
, vol.20
, Issue.4
, pp. 410-412
-
-
Senel, K.1
Melikoglu, M.A.2
Baykal, T.3
Melikoglu, M.4
Erdal, A.5
Ugur, M.6
-
29
-
-
33845439411
-
Meningitis associated with familial Mediterranean fever
-
DOI 10.1111/j.1368-504X.2005.00290.x
-
Karachaliou I., Karachalios G., Charalabopoulos A., Charalabopoulos K., Meningitis associated with familial Mediterranean fever. International Journal of Clinical Practice 2005 147 60 61 2-s2.0-22844450394 (Pubitemid 44890389)
-
(2005)
International Journal of Clinical Practice
, vol.59
, Issue.SUPPL. 147
, pp. 60-61
-
-
Karachaliou, I.1
Karachalios, G.2
Charalabopoulos, A.3
Charalabopoulos, K.4
-
30
-
-
84872762960
-
High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: Further evidence for the connection
-
10.1186/ar4154
-
Akar S., Soysal O., Balci A., Solmaz D., Gerdan V., Onen F., High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection. Arthritis Research & Therapy 2013 15 R21 10.1186/ar4154
-
(2013)
Arthritis Research & Therapy
, vol.15
-
-
Akar, S.1
Soysal, O.2
Balci, A.3
Solmaz, D.4
Gerdan, V.5
Onen, F.6
-
31
-
-
85046927071
-
Coexistence of familial Mediterranean fever and rheumatoid arthritis
-
10.1007/s10165-012-0762-2
-
Migita K., Abiru S., Sasaki O., Miyashita T., Izumi Y., Nishino A., Coexistence of familial Mediterranean fever and rheumatoid arthritis. Modern Rheumatology 2012 10.1007/s10165-012-0762-2
-
(2012)
Modern Rheumatology
-
-
Migita, K.1
Abiru, S.2
Sasaki, O.3
Miyashita, T.4
Izumi, Y.5
Nishino, A.6
-
32
-
-
78449290749
-
Periodic peritonitis due to familial mediterranean fever in a patient with systemic lupus erythematosus
-
2-s2.0-78449290749 10.2169/internalmedicine.49.4043
-
Matsuda M., Kishida D., Tsuchiya-Suzuki A., Fukushima K., Shimojima Y., Yazaki M., Ikeda S.-I., Periodic peritonitis due to familial mediterranean fever in a patient with systemic lupus erythematosus. Internal Medicine 2010 49 20 2259 2262 2-s2.0-78449290749 10.2169/internalmedicine.49.4043
-
(2010)
Internal Medicine
, vol.49
, Issue.20
, pp. 2259-2262
-
-
Matsuda, M.1
Kishida, D.2
Tsuchiya-Suzuki, A.3
Fukushima, K.4
Shimojima, Y.5
Yazaki, M.6
Ikeda, S.-I.7
-
33
-
-
80054964680
-
Coexistence of vasculitides with Familial Mediterranean Fever
-
2-s2.0-80054964680 10.1007/s00296-011-1840-z
-
Aksu K., Keser G., Coexistence of vasculitides with Familial Mediterranean Fever. Rheumatology International 2011 31 10 1263 1274 2-s2.0-80054964680 10.1007/s00296-011-1840-z
-
(2011)
Rheumatology International
, vol.31
, Issue.10
, pp. 1263-1274
-
-
Aksu, K.1
Keser, G.2
-
34
-
-
0031814513
-
Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the national institutes of health
-
DOI 10.1097/00005792-199807000-00005
-
Samuels J., Aksentijevich I., Torosyan Y., Centola M., Deng Z., Sood R., Kastner D. L., Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the national institutes of health. Medicine 1998 77 4 268 297 2-s2.0-0031814513 10.1097/00005792-199807000-00005 (Pubitemid 28376140)
-
(1998)
Medicine
, vol.77
, Issue.4
, pp. 268-297
-
-
Samuels, J.1
Aksentijevich, I.2
Torosyan, Y.3
Centola, M.4
Deng, Z.5
Sood, R.6
Kastner, D.L.7
-
35
-
-
79954513203
-
The plodding diagnosis of monogenic autoinflammatory diseases in childhood: From the clinical scenery to laboratory investigation
-
2-s2.0-79954513203 10.1515/CCLM.2011.127
-
Rigante D., Capoluongo E., The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation. Clinical Chemistry and Laboratory Medicine 2011 49 5 783 791 2-s2.0-79954513203 10.1515/CCLM.2011.127
-
(2011)
Clinical Chemistry and Laboratory Medicine
, vol.49
, Issue.5
, pp. 783-791
-
-
Rigante, D.1
Capoluongo, E.2
-
36
-
-
84873644880
-
Phenotype 2 familial mediterranean fever: Evaluation of 22 case series and review of the literature on phenotype 2 FMF
-
10.3109/0886022X.2012.745115
-
Altunoǧlu A., Erten Ş Canoz M. B., Yuksel A., Ceylan G. G., Balci S., Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF. Renal Failure 2013 35 2 226 230 10.3109/0886022X.2012.745115
-
(2013)
Renal Failure
, vol.35
, Issue.2
, pp. 226-230
-
-
Altunoǧlu, A.1
Erten, Ş.2
Canoz, M.B.3
Yuksel, A.4
Ceylan, G.G.5
Balci, S.6
-
37
-
-
0001397473
-
Amyloidosis as the sole manifestation of familial Mediterranean fever (FMF). Further evidence of its genetic nature
-
2-s2.0-0001397473
-
Blum A., Gafni J., Sohar E., Shibolet S., Heller H., Amyloidosis as the sole manifestation of familial Mediterranean fever (FMF). Further evidence of its genetic nature. Annals of Internal Medicine 1962 57 795 799 2-s2.0-0001397473
-
(1962)
Annals of Internal Medicine
, vol.57
, pp. 795-799
-
-
Blum, A.1
Gafni, J.2
Sohar, E.3
Shibolet, S.4
Heller, H.5
-
38
-
-
0027405593
-
Familial Mediterranean fever in the colchicine era: The fate of one family
-
DOI 10.1002/ajmg.1320450311
-
Zemer D., Livneh A., Pras M., Sohar E., Familial Mediterranean fever in the colchicine era: the fate of one family. American Journal of Medical Genetics 1993 45 3 340 344 2-s2.0-0027405593 10.1002/ajmg.1320450311 (Pubitemid 23033150)
-
(1993)
American Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 340-344
-
-
Zemer, D.1
Livneh, A.2
Pras, M.3
Sohar, E.4
-
39
-
-
0035882523
-
Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
-
DOI 10.1002/ajmg.1438
-
Kogan A., Shinar Y., Lidar M., Revivo A., Langevitz P., Padeh S., Pras M., Livneh A., Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. American Journal of Medical Genetics 2001 102 3 272 276 2-s2.0-0035882523 10.1002/ajmg.1438 (Pubitemid 32730278)
-
(2001)
American Journal of Medical Genetics
, vol.102
, Issue.3
, pp. 272-276
-
-
Kogan, A.1
Shinar, Y.2
Lidar, M.3
Revivo, A.4
Langevitz, P.5
Padeh, S.6
Pras, M.7
Livneh, A.8
-
40
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
DOI 10.1002/art.1780401023
-
Livneh A., Langevitz P., Zemer D., Zaks N., Kees S., Lidar T., Migdal A., Padeh S., Pras M., Criteria for the diagnosis of familial Mediterranean fever. Arthritis and Rheumatism 1997 40 10 1879 1885 2-s2.0-0030783102 10.1002/art.1780401023 (Pubitemid 27452541)
-
(1997)
Arthritis and Rheumatism
, vol.40
, Issue.10
, pp. 1879-1885
-
-
Livneh, A.1
Langevitz, P.2
Zemer, D.3
Zaks, N.4
Kees, S.5
Lidar, T.6
Migdal, A.7
Padeh, S.8
Pras, M.9
-
41
-
-
67650034998
-
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
-
2-s2.0-67650034998 10.1093/rheumatology/kep121
-
Koné-Paut I., Hentgen V., Guillaume-Czitrom S., Compeyrot-Lacassagne S., Tran T.-A., Touitou I., The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology 2009 48 7 840 842 2-s2.0-67650034998 10.1093/rheumatology/kep121
-
(2009)
Rheumatology
, vol.48
, Issue.7
, pp. 840-842
-
-
Koné-Paut, I.1
Hentgen, V.2
Guillaume-Czitrom, S.3
Compeyrot-Lacassagne, S.4
Tran, T.-A.5
Touitou, I.6
-
42
-
-
33748568520
-
The multi-face expression of familial mediterranean fever in the child
-
Rigante D., La Torraca I., Ansuini V., Compagnone A., Sallì A., Stabile A., The multi-face expression of familial mediterranean fever in the child. European Review for Medical and Pharmacological Sciences 2006 10 4 163 171 2-s2.0-33748568520 (Pubitemid 44468940)
-
(2006)
European Review for Medical and Pharmacological Sciences
, vol.10
, Issue.4
, pp. 163-171
-
-
Rigante, D.1
La Torraca, I.2
Ansuini, V.3
Compagnone, A.4
Salli, A.5
Stabile, A.6
-
43
-
-
0015519154
-
Colchicine for familial Mediterranean fever
-
2-s2.0-0015519154
-
Goldfinger S. E., Colchicine for familial Mediterranean fever. The New England Journal of Medicine 1972 287 25 1302 2-s2.0-0015519154
-
(1972)
The New England Journal of Medicine
, vol.287
, Issue.25
, pp. 1302
-
-
Goldfinger, S.E.1
-
44
-
-
0141523268
-
Familial Mediterranean fever
-
DOI 10.1007/s00467-003-1185-2
-
Bakkaloglu A., Familial Mediterranean fever. Pediatric Nephrology 2003 18 9 853 859 2-s2.0-0141523268 10.1007/s00467-003-1185-2 (Pubitemid 37121615)
-
(2003)
Pediatric Nephrology
, vol.18
, Issue.9
, pp. 853-859
-
-
Bakkaloglu, A.1
-
45
-
-
77958163786
-
AA type renal amyloidosis secondary to FMF: A long-term follow-up in two patients
-
2-s2.0-77958163786 10.3109/0886022X.2010.517344
-
Aybal Kutlugun A., Yildirim T., Altindal M., Arici M., Yasavul Ü., Turgan Ç., AA type renal amyloidosis secondary to FMF: a long-term follow-up in two patients. Renal Failure 2010 32 10 1230 1232 2-s2.0-77958163786 10.3109/0886022X.2010.517344
-
(2010)
Renal Failure
, vol.32
, Issue.10
, pp. 1230-1232
-
-
Aybal Kutlugun, A.1
Yildirim, T.2
Altindal, M.3
Arici, M.4
Yasavul, Ü.5
Turgan, Ç.6
-
46
-
-
0344897689
-
Colchicine treatment in children with familial Mediterranean fever
-
DOI 10.1007/s10067-003-0739-9
-
Ozkaya N., Yalcinkaya F., Colchicine treatment in children with familial Mediterranean fever. Clinical Rheumatology 2003 22 4-5 314 317 10.1007/s10067-003-0739-9 (Pubitemid 37483627)
-
(2003)
Clinical Rheumatology
, vol.22
, Issue.4-5
, pp. 314-317
-
-
Ozkaya, N.1
Yalcinkaya, F.2
-
47
-
-
0022570984
-
Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
-
Zemer D., Pras M., Sohar E., Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. The New England Journal of Medicine 1986 314 16 1001 1005 2-s2.0-0022570984 (Pubitemid 16138694)
-
(1986)
New England Journal of Medicine
, vol.314
, Issue.16
, pp. 1001-1005
-
-
Zemer, D.1
Pras, M.2
Sohar, E.3
-
48
-
-
1442274819
-
Colchicine Nonresponsiveness in Familial Mediterranean Fever: Clinical, Genetic, Pharmacokinetic, and Socioeconomic Characterization
-
DOI 10.1053/S0049-0172(03)00137-9
-
Lidar M., Scherrmann J.-M., Shinar Y., Chetrit A., Niel E., Gershoni-Baruch R., Langevitz P., Livneh A., Colchicine nonresponsiveness in Familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Seminars in Arthritis and Rheumatism 2004 33 4 273 282 2-s2.0-1442274819 10.1053/S0049-0172(03)00137-9 (Pubitemid 38280826)
-
(2004)
Seminars in Arthritis and Rheumatism
, vol.33
, Issue.4
, pp. 273-282
-
-
Lidar, M.1
Scherrmann, J.-M.2
Shinar, Y.3
Chetrit, A.4
Niel, E.5
Gershoni-Baruch, R.6
Langevitz, P.7
Livneh, A.8
-
49
-
-
17844377905
-
Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: An update
-
DOI 10.2174/1568010053622984
-
Cerquaglia C., Diaco M., Nucera G., La Regina M., Montalto M., Manna R., Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update. Current Drug Targets 2005 4 1 117 124 2-s2.0-17844377905 10.2174/1568010053622984 (Pubitemid 40584862)
-
(2005)
Current Drug Targets: Inflammation and Allergy
, vol.4
, Issue.1
, pp. 117-124
-
-
Cerquaglia, C.1
Diaco, M.2
Nucera, G.3
La Regina, M.4
Montalto, M.5
Manna, R.6
-
50
-
-
80855165285
-
Therapeutic approach to familial Mediterranean fever: A review update
-
2-s2.0-80855165285
-
Ozturk M. A., Kanbay M., Kasapoglu B., Onat A. M., Guz G., Furst D. E., Ben-Chetrit E., Therapeutic approach to familial Mediterranean fever: a review update. Clinical and Experimental Rheumatology 2011 29 4 S77 S86 2-s2.0-80855165285
-
(2011)
Clinical and Experimental Rheumatology
, vol.29
, Issue.4
-
-
Ozturk, M.A.1
Kanbay, M.2
Kasapoglu, B.3
Onat, A.M.4
Guz, G.5
Furst, D.E.6
Ben-Chetrit, E.7
-
51
-
-
42749097593
-
Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion
-
2-s2.0-42749097593 10.1016/j.jbspin.2007.10.004
-
Erken E., Ozer H. T. E., Bozkurt B., Gunesacar R., Erken E. G., Dinkci S., Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion. Joint Bone Spine 2008 75 3 370 372 2-s2.0-42749097593 10.1016/j.jbspin.2007.10.004
-
(2008)
Joint Bone Spine
, vol.75
, Issue.3
, pp. 370-372
-
-
Erken, E.1
Ozer, H.T.E.2
Bozkurt, B.3
Gunesacar, R.4
Erken, E.G.5
Dinkci, S.6
-
52
-
-
0028101194
-
Protracted febrile myalgia in patients with familial mediterranean fever
-
Langevitz P., Zemer D., Livneh A., Protracted febrile myalgia in patients with familial mediterranean fever. Journal of Rheumatology 1994 21 9 1708 1709 2-s2.0-0028101194 (Pubitemid 24285488)
-
(1994)
Journal of Rheumatology
, vol.21
, Issue.9
, pp. 1708-1709
-
-
Langevitz, P.1
Zemer, D.2
Livneh, A.3
-
53
-
-
84880800600
-
IL-1 β biological treatment of Familial Mediterranean fever
-
10.1007/s12016-013-8358-y
-
Soriano A., Verecchia E., Afeltra A., Landolfi R., Manna R., IL-1 β biological treatment of Familial Mediterranean fever. Clinical Reviews in Allergy & Immunology 2013 45 1 117 130 10.1007/s12016-013-8358-y
-
(2013)
Clinical Reviews in Allergy & Immunology
, vol.45
, Issue.1
, pp. 117-130
-
-
Soriano, A.1
Verecchia, E.2
Afeltra, A.3
Landolfi, R.4
Manna, R.5
-
54
-
-
84855658573
-
Anti-TNF agents in Familial Mediterranean fever: Report of three cases and review of the literature
-
2-s2.0-84855658573 10.1007/s10165-011-0463-2
-
Ozgocmen S., Akgul O., Anti-TNF agents in Familial Mediterranean fever: report of three cases and review of the literature. Modern Rheumatology 2011 21 6 684 690 2-s2.0-84855658573 10.1007/s10165-011-0463-2
-
(2011)
Modern Rheumatology
, vol.21
, Issue.6
, pp. 684-690
-
-
Ozgocmen, S.1
Akgul, O.2
-
55
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott M. F., Aksentijevich I., Galon J., McDermott E. M., William Ogunkolade B., Centola M., Mansfield E., Gadina M., Karenko L., Pettersson T., McCarthy J., Frucht D. M., Aringer M., Torosyan Y., Teppo A.-M., Wilson M., Mehmet Karaarslan H., Wan Y., Todd L., Wood G., Schlimgen R., Kumarajeewa T. R., Cooper S. M., Vella J. P., Amos C. I., Mulley J., Quane K. A., Molloy M. G., Ranki A., Powell R. J., Hitman G. A., O'Shea J. J., Kastner D. L., Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999 97 1 133 144 2-s2.0-0033515520 (Pubitemid 29165896)
-
(1999)
Cell
, vol.97
, Issue.1
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.M.4
William Ogunkolade, B.5
Centola, M.6
Mansfield, E.7
Gadina, M.8
Karenko, L.9
Pettersson, T.10
McCarthy, J.11
Frucht, D.M.12
Aringer, M.13
Torosyan, Y.14
Teppo, A.-M.15
Wilson, M.16
Mehmet Karaarslan, H.17
Wan, Y.18
Todd, L.19
Wood, G.20
Schlimgen, R.21
Kumarajeewa, T.R.22
Cooper, S.M.23
Vella, J.P.24
Amos, C.I.25
Mulley, J.26
Quane, K.A.27
Molloy, M.G.28
Ranki, A.29
Powell, R.J.30
Hitman, G.A.31
O'Shea, J.J.32
Kastner, D.L.33
more..
-
56
-
-
0034926933
-
The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
-
DOI 10.1086/321976
-
Aksentijevich I., Galon J., Soares M., Mansfield E., Hull K., Oh H.-H., Goldbach-Mansky R., Dean J., Athreya B., Reginato A. J., Henrickson M., Pons-Estel B., O'Shea J. J., Kastner D. L., The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. American Journal of Human Genetics 2001 69 2 301 314 2-s2.0-0034926933 10.1086/321976 (Pubitemid 32695203)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.2
, pp. 301-314
-
-
Aksentijevich, I.1
Galon, J.2
Soares, M.3
Mansfield, E.4
Hull, K.5
Oh, H.-H.6
Goldbach-Mansky, R.7
Dean, J.8
Athreya, B.9
Reginato, A.J.10
Henrickson, M.11
Pons-Estel, B.12
O'Shea, J.J.13
Kastner, D.L.14
-
57
-
-
0034733682
-
A domain in TNF receptors that mediates ligand-independent receptor assembty and signaling
-
DOI 10.1126/science.288.5475.2351
-
Chan F. K.-M., Chun H. J., Zheng L., Siegel R. M., Bui K. L., Lenardo M. J., A domain in TNF receptors that mediates ligand-independent receptor assembty and signaling. Science 2000 288 5475 2351 2354 2-s2.0-0034733682 10.1126/science.288.5475.2351 (Pubitemid 30448156)
-
(2000)
Science
, vol.288
, Issue.5475
, pp. 2351-2354
-
-
Chan, F.K.-M.1
Chun, H.J.2
Zheng, L.3
Siegel, R.M.4
Bui, K.L.5
Lenardo, M.J.6
-
58
-
-
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
-
DOI 10.1002/art.21964
-
Rebelo S. L., Bainbridge S. E., Amel-Kashipaz M. R., Radford P. M., Powell R. J., Todd I., Tighe P. J., 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 and Rheumatism 2006 54 8 2674 2687 2-s2.0-33746971927 10.1002/art.21964 (Pubitemid 44205030)
-
(2006)
Arthritis and Rheumatism
, vol.54
, Issue.8
, pp. 2674-2687
-
-
Rebelo, S.L.1
Bainbridge, S.E.2
Amel-Kashipaz, M.R.3
Radford, P.M.4
Powell, R.J.5
Todd, I.6
Tighe, P.J.7
-
59
-
-
33747780470
-
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
-
DOI 10.1136/ard.2005.048611
-
Ravet N., Rouaghe S., Dodé C., Bienvenu J., Stirnemann J., Lévy P., Delpech M., Grateau G., Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Annals of the Rheumatic Diseases 2006 65 9 1158 1162 2-s2.0-33747780470 10.1136/ard.2005. 048611 (Pubitemid 44277389)
-
(2006)
Annals of the Rheumatic Diseases
, vol.65
, Issue.9
, pp. 1158-1162
-
-
Ravet, N.1
Rouaghe, S.2
Dode, C.3
Bienvenu, J.4
Stirnemann, J.5
Levy, P.6
Delpech, M.7
Grateau, G.8
-
60
-
-
17144368470
-
Unexpected high frequency of P46L TNFRSF1A allele in sub-Sahara West African populations
-
DOI 10.1038/sj.ejhg.5201344
-
Tchernitchko D., Chiminqgi M., Galactéros F., Préhu C., Segbena Y., Coulibaly H., Rebaya N., Loric S., Unexpected high frequency of P46L TNFRSF1A allele in sub-Sahara West African populations. European Journal of Human Genetics 2005 13 4 513 515 2-s2.0-17144368470 10.1038/sj.ejhg.5201344 (Pubitemid 40520946)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.4
, pp. 513-515
-
-
Tchernitchko, D.1
Chiminqgi, M.2
Galacteros, F.3
Prehu, C.4
Segbena, Y.5
Coulibaly, H.6
Rebaya, N.7
Loric, S.8
-
61
-
-
77953089570
-
Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome
-
2-s2.0-77953089570 10.1073/pnas.0914118107
-
Simon A., Park H., Maddipati R., Lobito A. A., Bulua A. C., Jackson A. J., Chae J. J., Ettinger R., De Koning H. D., Cruz A. C., Kastner D. L., Komarow H., Siegel R. M., Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proceedings of the National Academy of Sciences of the United States of America 2010 107 21 9801 9806 2-s2.0-77953089570 10.1073/pnas.0914118107
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, Issue.21
, pp. 9801-9806
-
-
Simon, A.1
Park, H.2
Maddipati, R.3
Lobito, A.A.4
Bulua, A.C.5
Jackson, A.J.6
Chae, J.J.7
Ettinger, R.8
De Koning, H.D.9
Cruz, A.C.10
Kastner, D.L.11
Komarow, H.12
Siegel, R.M.13
-
62
-
-
84863721668
-
Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: Results of a multicentre study
-
2-s2.0-84856424402 10.1007/s00392-012-0422-8
-
Cantarini L., Lucherini O. M., Brucato A., Barone L., Cumetti D., Iacoponi F., Rigante D., Brambilla G., Penco S., Brizi M. G., Patrosso M. C., Valesini G., Frediani B., Galeazzi M., Cimaz R., Paolazzi G., Vitale A., Imazio M., Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. Clinical Research in Cardiology 2012 101 525 531 2-s2.0-84856424402 10.1007/s00392-012-0422-8
-
(2012)
Clinical Research in Cardiology
, vol.101
, pp. 525-531
-
-
Cantarini, L.1
Lucherini, O.M.2
Brucato, A.3
Barone, L.4
Cumetti, D.5
Iacoponi, F.6
Rigante, D.7
Brambilla, G.8
Penco, S.9
Brizi, M.G.10
Patrosso, M.C.11
Valesini, G.12
Frediani, B.13
Galeazzi, M.14
Cimaz, R.15
Paolazzi, G.16
Vitale, A.17
Imazio, M.18
-
63
-
-
77956989287
-
Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome
-
2-s2.0-77956989287
-
Cantarini L., Lucherini O. M., Baldari C. T., Laghi Pasini F., Galeazzi M., Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome. Clinical and Experimental Rheumatology 2010 28 3 405 407 2-s2.0-77956989287
-
(2010)
Clinical and Experimental Rheumatology
, vol.28
, Issue.3
, pp. 405-407
-
-
Cantarini, L.1
Lucherini, O.M.2
Baldari, C.T.3
Laghi Pasini, F.4
Galeazzi, M.5
-
64
-
-
76349123818
-
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
-
2-s2.0-76349123818
-
Cantarini L., Lucherini O. M., Cimaz R., Baldari C. T., Bellisai F., Rossi Paccani S., Laghi Pasini F., Capecchi P. L., Sebastiani G. D., Galeazzi M., Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. International Journal of Immunopathology and Pharmacology 2009 22 4 1051 1058 2-s2.0-76349123818
-
(2009)
International Journal of Immunopathology and Pharmacology
, vol.22
, Issue.4
, pp. 1051-1058
-
-
Cantarini, L.1
Lucherini, O.M.2
Cimaz, R.3
Baldari, C.T.4
Bellisai, F.5
Rossi Paccani, S.6
Laghi Pasini, F.7
Capecchi, P.L.8
Sebastiani, G.D.9
Galeazzi, M.10
-
65
-
-
77952754400
-
Sacroileitis and pericarditis: Atypical presentation of tumour necrosis factor receptor-associated periodic syndrome and response to etanercept therapy
-
2-s2.0-77952754400
-
Cantarini L., Lucherini O. M., Cimaz R., Baldari C. T., Laghi Pasini F., Galeazzi M., Sacroileitis and pericarditis: atypical presentation of tumour necrosis factor receptor-associated periodic syndrome and response to etanercept therapy. Clinical and Experimental Rheumatology 2010 28 2 290 291 2-s2.0-77952754400
-
(2010)
Clinical and Experimental Rheumatology
, vol.28
, Issue.2
, pp. 290-291
-
-
Cantarini, L.1
Lucherini, O.M.2
Cimaz, R.3
Baldari, C.T.4
Laghi Pasini, F.5
Galeazzi, M.6
-
66
-
-
79952184583
-
Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
-
2-s2.0-79952184583 10.1084/jem.20102049
-
Bulua A. C., Simon A., Maddipati R., Pelletier M., Park H., Kim K.-Y., Sack M. N., Kastner D. L., Siegel R. M., Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). Journal of Experimental Medicine 2011 208 3 519 533 2-s2.0-79952184583 10.1084/jem.20102049
-
(2011)
Journal of Experimental Medicine
, vol.208
, Issue.3
, pp. 519-533
-
-
Bulua, A.C.1
Simon, A.2
Maddipati, R.3
Pelletier, M.4
Park, H.5
Kim, K.-Y.6
Sack, M.N.7
Kastner, D.L.8
Siegel, R.M.9
-
67
-
-
84868446260
-
Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome
-
10.1136/annrheumdis-2011-201197
-
Dickie L. J., Aziz A. M., Savic S., Lucherini O. M., Cantarini L., Geiler J., Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome. Annals of the Rheumatic Diseases 2012 71 12 2035 2043 10.1136/annrheumdis-2011-201197
-
(2012)
Annals of the Rheumatic Diseases
, vol.71
, Issue.12
, pp. 2035-2043
-
-
Dickie, L.J.1
Aziz, A.M.2
Savic, S.3
Lucherini, O.M.4
Cantarini, L.5
Geiler, J.6
-
68
-
-
0141564873
-
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
-
DOI 10.1002/art.11215
-
Aganna E., Hammond L., Hawkins P. N., Aldea A., McKee S. A., Van Amstel H. K. P., Mischung C., Kusuhara K., Saulsbury F. T., Lachmann H. J., Bybee A., McDermott E. M., La Regina M., Arostegui J. I., Campistol J. M., Worthington S., High K. P., Molloy M. G., Baker N., Bidwell J. L., Castañer J. L., Whiteford M. L., Janssens-Korpola P. L., Manna R., Powell R. J., Woo P., Solis P., Minden K., Frenkel J., Yagüe J., Mirakian R. M., Hitman G. A., McDermott M. F., Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis and Rheumatism 2003 48 9 2632 2644 2-s2.0-0141564873 10.1002/art.11215 (Pubitemid 37129441)
-
(2003)
Arthritis and Rheumatism
, vol.48
, Issue.9
, pp. 2632-2644
-
-
Aganna, E.1
Hammond, L.2
Hawkins, P.N.3
Aldea, A.4
McKee, S.A.5
Van Amstel, H.K.P.6
Mischung, C.7
Kusuhara, K.8
Saulsbury, F.T.9
Lachmann, H.J.10
Bybee, A.11
McDermott, E.M.12
La Regina, M.13
Arostegui, J.I.14
Campistol, J.M.15
Worthington, S.16
High, K.P.17
Molloy, M.G.18
Baker, N.19
Bidwell, J.L.20
Castaner, J.L.21
Whiteford, M.L.22
Janssens-Korpola, P.L.23
Manna, R.24
Powell, R.J.25
Woo, P.26
Solis, P.27
Minden, K.28
Frenkel, J.29
Yague, J.30
Mirakian, R.M.31
Hitman, G.A.32
McDermott, M.F.33
more..
-
69
-
-
84866867382
-
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): State of the art and future perspectives
-
10.1016/j.autrev.2012.07.020
-
Cantarini L., Lucherini O. M., Muscari I., Frediani B., Galeazzi M., Brizi M. G., Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives. Autoimmunity Reviews 2012 12 1 38 43 10.1016/j.autrev.2012.07.020
-
(2012)
Autoimmunity Reviews
, vol.12
, Issue.1
, pp. 38-43
-
-
Cantarini, L.1
Lucherini, O.M.2
Muscari, I.3
Frediani, B.4
Galeazzi, M.5
Brizi, M.G.6
-
70
-
-
77956310861
-
Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
-
2-s2.0-77956310861 10.4161/derm.2.1.12387
-
Schmaltz R., Vogt T., Reichrath J., Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Dermato-Endocrinology 2010 2 1 26 29 2-s2.0-77956310861 10.4161/derm.2.1.12387
-
(2010)
Dermato-Endocrinology
, vol.2
, Issue.1
, pp. 26-29
-
-
Schmaltz, R.1
Vogt, T.2
Reichrath, J.3
-
71
-
-
79960712082
-
Monogenic autoinflammatory syndromes at a dermatological level
-
2-s2.0-79960712082 10.1007/s00403-011-1134-z
-
Rigante D., Cantarini L., Monogenic autoinflammatory syndromes at a dermatological level. Archives of Dermatological Research 2011 303 6 375 380 2-s2.0-79960712082 10.1007/s00403-011-1134-z
-
(2011)
Archives of Dermatological Research
, vol.303
, Issue.6
, pp. 375-380
-
-
Rigante, D.1
Cantarini, L.2
-
72
-
-
0036733312
-
The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
-
2-s2.0-0036733312 10.1097/00005792-200209000-00002
-
Hull K. M., Drewe E., Aksentijevich I., Singh H. K., Wong K., McDermott E. M., Dean J., Powell R. J., Kastner D. L., The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine 2002 81 5 349 368 2-s2.0-0036733312 10.1097/00005792-200209000-00002
-
(2002)
Medicine
, vol.81
, Issue.5
, pp. 349-368
-
-
Hull, K.M.1
Drewe, E.2
Aksentijevich, I.3
Singh, H.K.4
Wong, K.5
McDermott, E.M.6
Dean, J.7
Powell, R.J.8
Kastner, D.L.9
-
73
-
-
0036675112
-
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
-
10.1002/art.10429
-
Dodé C., André M., Bienvenu T., Hausfater P., Pêcheux P., Bienvenu J., The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis & Rheumatism 2002 46 8 2181 2188 10.1002/art.10429
-
(2002)
Arthritis & Rheumatism
, vol.46
, Issue.8
, pp. 2181-2188
-
-
Dodé, C.1
André, M.2
Bienvenu, T.3
Hausfater, P.4
Pêcheux, P.5
Bienvenu, J.6
-
74
-
-
79959358691
-
Autoinflammatory diseases and cardiovascular manifestations
-
2-s2.0-79959358691 10.3109/07853890.2010.547212
-
Rigante D., Cantarini L., Imazio M., Lucherini O. M., Sacco E., Galeazzi M., Brizi M. G., Brucato A., Autoinflammatory diseases and cardiovascular manifestations. Annals of Medicine 2011 43 5 341 346 2-s2.0-79959358691 10.3109/07853890.2010.547212
-
(2011)
Annals of Medicine
, vol.43
, Issue.5
, pp. 341-346
-
-
Rigante, D.1
Cantarini, L.2
Imazio, M.3
Lucherini, O.M.4
Sacco, E.5
Galeazzi, M.6
Brizi, M.G.7
Brucato, A.8
-
75
-
-
77949918479
-
Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis
-
2-s2.0-77949918479 10.1016/j.autrev.2009.11.021
-
Luca C., Massimo I., Antonio B., Maria L. O., Mauro G., Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis. Autoimmunity Reviews 2010 9 6 436 440 2-s2.0-77949918479 10.1016/j.autrev.2009.11.021
-
(2010)
Autoimmunity Reviews
, vol.9
, Issue.6
, pp. 436-440
-
-
Luca, C.1
Massimo, I.2
Antonio, B.3
Maria, L.O.4
Mauro, G.5
-
76
-
-
11844294692
-
Myocarditis and sacroiliitis: 2 Previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome
-
Trost S., Rosé C. D., Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. Journal of Rheumatology 2005 32 1 175 177 2-s2.0-11844294692 (Pubitemid 40092609)
-
(2005)
Journal of Rheumatology
, vol.32
, Issue.1
, pp. 175-177
-
-
Trost, S.1
Rose, C.D.2
-
77
-
-
78650552920
-
Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment
-
2-s2.0-78650552920
-
Cantarini L., Lucherini O. M., Cimaz R., Galeazzi M., Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment. Clinical and Experimental Rheumatology 2010 28 5 802 2-s2.0-78650552920
-
(2010)
Clinical and Experimental Rheumatology
, vol.28
, Issue.5
, pp. 802
-
-
Cantarini, L.1
Lucherini, O.M.2
Cimaz, R.3
Galeazzi, M.4
-
78
-
-
78149272003
-
Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: Personal experience and review of the literature
-
2-s2.0-78149272003
-
Cantarini L., Rigante D., Lucherini O. M., Cimaz R., Laghi Pasini F., Baldari C. T., Benucci M., Simonini G., Di Sabatino V., Brizi M. G., Galeazzi M., Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature. International Journal of Immunopathology and Pharmacology 2010 23 3 701 707 2-s2.0-78149272003
-
(2010)
International Journal of Immunopathology and Pharmacology
, vol.23
, Issue.3
, pp. 701-707
-
-
Cantarini, L.1
Rigante, D.2
Lucherini, O.M.3
Cimaz, R.4
Laghi Pasini, F.5
Baldari, C.T.6
Benucci, M.7
Simonini, G.8
Di Sabatino, V.9
Brizi, M.G.10
Galeazzi, M.11
-
79
-
-
50249188364
-
Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment
-
2-s2.0-50249188364 10.1136/ard.2007.079376
-
Stojanov S., Dejaco C., Lohse P., Huss K., Duftner C., Belohradsky B. H., Herold M., Schirmer M., Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Annals of the Rheumatic Diseases 2008 67 9 1292 1298 2-s2.0-50249188364 10.1136/ard.2007.079376
-
(2008)
Annals of the Rheumatic Diseases
, vol.67
, Issue.9
, pp. 1292-1298
-
-
Stojanov, S.1
Dejaco, C.2
Lohse, P.3
Huss, K.4
Duftner, C.5
Belohradsky, B.H.6
Herold, M.7
Schirmer, M.8
-
80
-
-
43949128071
-
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
-
DOI 10.1002/art.23475
-
Gattorno M., Pelagatti M. A., Meini A., Obici L., Barcellona R., Federici S., Buoncompagni A., Plebani A., Merlini G., Martini A., Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis and Rheumatism 2008 58 5 1516 1520 2-s2.0-43949128071 10.1002/art.23475 (Pubitemid 351705941)
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.5
, pp. 1516-1520
-
-
Gattorno, M.1
Pelagatti, M.A.2
Meini, A.3
Obici, L.4
Barcellona, R.5
Federici, S.6
Buoncompagni, A.7
Plebani, A.8
Merlini, G.9
Martini, A.10
-
81
-
-
36448947978
-
Comment on: Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS) [8]
-
DOI 10.1093/rheumatology/kem231
-
Drewe E., Powell R. J., Mcdermott E. M., Comment on: failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology 2007 46 12 1865 1866 2-s2.0-36448947978 10.1093/rheumatology/kem231 (Pubitemid 350168311)
-
(2007)
Rheumatology
, vol.46
, Issue.12
, pp. 1865-1866
-
-
Drewe, E.1
Powell, R.J.2
Mcdermott, E.M.3
-
82
-
-
59649101629
-
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome
-
2-s2.0-59649101629 10.1002/art.24294
-
Nedjai B., Hitman G. A., Quillinan N., Coughlan R. J., Church L., McDermott M. F., Turner M. D., Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis and Rheumatism 2009 60 2 619 625 2-s2.0-59649101629 10.1002/art.24294
-
(2009)
Arthritis and Rheumatism
, vol.60
, Issue.2
, pp. 619-625
-
-
Nedjai, B.1
Hitman, G.A.2
Quillinan, N.3
Coughlan, R.J.4
Church, L.5
McDermott, M.F.6
Turner, M.D.7
-
83
-
-
79959793377
-
Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis
-
2-s2.0-79959793377 10.1136/ard.2010.143438
-
Obici L., Meini A., Cattalini M., Chicca S., Galliani M., Donadei S., Plebani A., Merlini G., Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis. Annals of the Rheumatic Diseases 2011 70 8 1511 1512 2-s2.0-79959793377 10.1136/ard.2010.143438
-
(2011)
Annals of the Rheumatic Diseases
, vol.70
, Issue.8
, pp. 1511-1512
-
-
Obici, L.1
Meini, A.2
Cattalini, M.3
Chicca, S.4
Galliani, M.5
Donadei, S.6
Plebani, A.7
Merlini, G.8
-
84
-
-
84862731000
-
Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab
-
10.7326/0003-4819-156-12-201206190-00027
-
Brizi M. G., Galeazzi M., Lucherini O. M., Cantarini L., Cimaz R., Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab. Annals of Internal Medicine 2012 156 12 907 908 10.7326/0003-4819-156-12-201206190-00027
-
(2012)
Annals of Internal Medicine
, vol.156
, Issue.12
, pp. 907-908
-
-
Brizi, M.G.1
Galeazzi, M.2
Lucherini, O.M.3
Cantarini, L.4
Cimaz, R.5
-
85
-
-
79953689919
-
Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome
-
2-s2.0-79953689919 10.1002/art.30215
-
Vaitla P. M., Radford P. M., Tighe P. J., Powell R. J., McDermott E. M., Todd I., Drewe E., Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome. Arthritis and Rheumatism 2011 63 4 1151 1155 2-s2.0-79953689919 10.1002/art.30215
-
(2011)
Arthritis and Rheumatism
, vol.63
, Issue.4
, pp. 1151-1155
-
-
Vaitla, P.M.1
Radford, P.M.2
Tighe, P.J.3
Powell, R.J.4
McDermott, E.M.5
Todd, I.6
Drewe, E.7
-
86
-
-
84856571891
-
Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes
-
2-s2.0-84856571891
-
Cantarini L., Lucherini O. M., Frediani B., Brizi M. G., Bartolomei B., Cimaz R., Galeazzi M., Rigante D., Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. International Journal of Immunopathology and Pharmacology 2011 24 4 827 836 2-s2.0-84856571891
-
(2011)
International Journal of Immunopathology and Pharmacology
, vol.24
, Issue.4
, pp. 827-836
-
-
Cantarini, L.1
Lucherini, O.M.2
Frediani, B.3
Brizi, M.G.4
Bartolomei, B.5
Cimaz, R.6
Galeazzi, M.7
Rigante, D.8
-
87
-
-
1642285783
-
NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
-
DOI 10.1016/S1074-7613(04)00046-9, PII S1074761304000469
-
Agostini L., Martinon F., Burns K., McDermott M. F., Hawkins P. N., Tschopp J., NALP3 forms an IL-1 β -processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004 20 3 319 325 2-s2.0-1642285783 10.1016/S1074-7613(04)00046-9 (Pubitemid 38388233)
-
(2004)
Immunity
, vol.20
, Issue.3
, pp. 319-325
-
-
Agostini, L.1
Martinon, F.2
Burns, K.3
McDermott, M.F.4
Hawkins, P.N.5
Tschopp, J.6
-
88
-
-
84857296761
-
Cryopyrin-associated periodic syndromes: Diagnosis and management
-
2-s2.0-84857296761 10.2165/11595040-000000000-00000
-
Miyamae T., Cryopyrin-associated periodic syndromes: diagnosis and management. Pediatric Drugs 2012 14 2 109 117 2-s2.0-84857296761 10.2165/11595040-000000000-00000
-
(2012)
Pediatric Drugs
, vol.14
, Issue.2
, pp. 109-117
-
-
Miyamae, T.1
-
89
-
-
0034774916
-
Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
-
DOI 10.1067/mai.2001.118790
-
Hoffman H. M., Wanderer A. A., Broide D. H., Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. Journal of Allergy and Clinical Immunology 2001 108 4 615 620 2-s2.0-0034774916 10.1067/mai.2001.118790 (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
-
90
-
-
84872736378
-
Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: A case series
-
Vitale A., Lucherini O. M., Galeazzi M., Frediani B., Cantarini L., Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clinical and Experimental Rheumatology 2012 30 943 946
-
(2012)
Clinical and Experimental Rheumatology
, vol.30
, pp. 943-946
-
-
Vitale, A.1
Lucherini, O.M.2
Galeazzi, M.3
Frediani, B.4
Cantarini, L.5
-
91
-
-
73649189052
-
Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
-
2-s2.0-73649189052
-
Muckle T. J., Wellsm W., Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. The Quarterly journal of medicine 1962 31 235 248 2-s2.0-73649189052
-
(1962)
The Quarterly Journal of Medicine
, vol.31
, pp. 235-248
-
-
Muckle, T.J.1
Wellsm, W.2
-
92
-
-
34047120264
-
A cryopyrin-associated periodic syndrome with joint destruction
-
DOI 10.1093/rheumatology/kel399
-
Lequerré T., Vittecoq O., Saugier-Veber P., Goldenberg A., Patoz P., Frébourg T., Le Loët X., A cryopyrin-associated periodic syndrome with joint destruction. Rheumatology 2007 46 4 709 714 2-s2.0-34047120264 10.1093/rheumatology/kel399 (Pubitemid 46523322)
-
(2007)
Rheumatology
, vol.46
, Issue.4
, pp. 709-714
-
-
Lequerre, T.1
Vittecoq, O.2
Saugier-Veber, P.3
Goldenberg, A.4
Patoz, P.5
Frebourg, T.6
Le Loet, X.7
-
93
-
-
0015688258
-
Syndrome for diagnosis: Dwarfing, persistently open fontanelle; Recurrent meningitis; Recurrent subdural effusions with temporary alternate-sided hemiplegia; High-tone deafness; Visual defect with pseudopapilloedema; Slowing intellectual development; Recurrent acute polyarthritis; Erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia
-
2-s2.0-0015688258
-
Lorber J., Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis; erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia. Proceedings of the Royal Society of Medicine 1973 66 11 1070 1071 2-s2.0-0015688258
-
(1973)
Proceedings of the Royal Society of Medicine
, vol.66
, Issue.11
, pp. 1070-1071
-
-
Lorber, J.1
-
94
-
-
0035098521
-
A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy
-
Prieur A.-M., A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clinical and Experimental Rheumatology 2001 19 1 103 106 2-s2.0-0035098521 (Pubitemid 32203858)
-
(2001)
Clinical and Experimental Rheumatology
, vol.19
, Issue.1
, pp. 103-106
-
-
Prieur, A.-M.1
-
95
-
-
33846219617
-
Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)
-
DOI 10.1007/s00247-006-0358-0
-
Hill S. C., Namde M., Dwyer A., Poznanski A., Canna S., Goldbach-Mansky R., Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatric Radiology 2007 37 2 145 152 2-s2.0-33846219617 10.1007/s00247-006-0358-0 (Pubitemid 46098444)
-
(2007)
Pediatric Radiology
, vol.37
, Issue.2
, pp. 145-152
-
-
Hill, S.C.1
Namde, M.2
Dwyer, A.3
Poznanski, A.4
Canna, S.5
Goldbach-Mansky, R.6
-
96
-
-
77951473388
-
Neurologic manifestations of the cryopyrin-associated periodic syndrome
-
2-s2.0-77951473388 10.1212/WNL.0b013e3181d9ed69
-
Kitley J. L., Lachmann H. J., Pinto A., Ginsberg L., Neurologic manifestations of the cryopyrin-associated periodic syndrome. Neurology 2010 74 16 1267 1270 2-s2.0-77951473388 10.1212/WNL.0b013e3181d9ed69
-
(2010)
Neurology
, vol.74
, Issue.16
, pp. 1267-1270
-
-
Kitley, J.L.1
Lachmann, H.J.2
Pinto, A.3
Ginsberg, L.4
-
97
-
-
33645315777
-
Hydrocephalus in CINCA syndrome treated with anakinra
-
2-s2.0-33645315777 10.1007/s00381-006-1280-3
-
Rigante D., Ansuini V., Caldarelli M., Bertoni B., La Torraca I., Stabile A., Hydrocephalus in CINCA syndrome treated with anakinra. Child's Nervous System 2006 22 4 334 337 2-s2.0-33645315777 10.1007/s00381-006-1280-3
-
(2006)
Child's Nervous System
, vol.22
, Issue.4
, pp. 334-337
-
-
Rigante, D.1
Ansuini, V.2
Caldarelli, M.3
Bertoni, B.4
La Torraca, I.5
Stabile, A.6
-
98
-
-
33746876396
-
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
-
DOI 10.1056/NEJMoa055137
-
Goldbach-Mansky R., Dailey N. J., Canna S. W., Gelabert A., Jones J., Rubin B. I., Kim H. J., Brewer C., Zalewski C., Wiggs E., Hill S., Turner M. L., Karp B. I., Aksentijevich I., Pucino F., Penzak S. R., Haverkamp M. H., Stein L., Adams B. S., Moore T. L., Fuhlbrigge R. C., Shaham B., Jarvis J. N., O'Neil K., Vehe R. K., Beitz L. O., Gardner G., Hannan W. P., Warren R. W., Horn W., Cole J. L., Paul S. M., Hawkins P. N., Tuyet H. P., Snyder C., Wesley R. A., Hoffmann S. C., Holland S. M., Butman J. A., Kastner D. L., Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 β inhibition. The New England Journal of Medicine 2006 355 6 581 592 2-s2.0-33746876396 10.1056/NEJMoa055137 (Pubitemid 44200651)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.6
, pp. 581-592
-
-
Goldbach-Mansky, R.1
Dailey, N.J.2
Canna, S.W.3
Gelabert, A.4
Jones, J.5
Rubin, B.I.6
Kim, H.J.7
Brewer, C.8
Zalewski, C.9
Wiggs, E.10
Hill, S.11
Turner, M.L.12
Karp, B.I.13
Aksentijevich, I.14
Pucino, F.15
Penzak, S.R.16
Haverkamp, M.H.17
Stein, L.18
Adams, B.S.19
Moore, T.L.20
Fuhlbrigge, R.C.21
Shaham, B.22
Jarvis, J.N.23
O'Neil, K.24
Vehe, R.K.25
Beitz, L.O.26
Gardner, G.27
Hannan, W.P.28
Warren, R.W.29
Horn, W.30
Cole, J.L.31
Paul, S.M.32
Hawkins, P.N.33
Tuyet, H.P.34
Snyder, C.35
Wesley, R.A.36
Hoffmann, S.C.37
Holland, S.M.38
Butman, J.A.39
Kastner, D.L.40
more..
-
99
-
-
66649102432
-
Use of canakinumab in the cryopyrin-associated periodic syndrome
-
2-s2.0-66649102432 10.1056/NEJMoa0810787
-
Lachmann H. J., Kone-Paut I., Kuemmerle-Deschner J. B., Leslie K. S., Hachulla E., Quartier P., Gitton X., Widmer A., Patel N., Hawkins P. N., Use of canakinumab in the cryopyrin-associated periodic syndrome. The New England Journal of Medicine 2009 360 23 2416 2425 2-s2.0-66649102432 10.1056/NEJMoa0810787
-
(2009)
The New England Journal of Medicine
, vol.360
, Issue.23
, pp. 2416-2425
-
-
Lachmann, H.J.1
Kone-Paut, I.2
Kuemmerle-Deschner, J.B.3
Leslie, K.S.4
Hachulla, E.5
Quartier, P.6
Gitton, X.7
Widmer, A.8
Patel, N.9
Hawkins, P.N.10
-
100
-
-
84860389457
-
Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
-
2-s2.0-84860389457 10.1136/ard.2011.152728
-
Kuemmerle-Deschner J. B., Hachulla E., Cartwright R., Hawkins P. N., Tran T. A., Bader-Meunier B., Hoyer J., Gattorno M., Gul A., Smith J., Leslie K. S., Jiménez S., Morell-Dubois S., Davis N., Patel N., Widmer A., Preiss R., Lachmann H. J., Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Annals of the Rheumatic Diseases 2011 70 12 2095 2102 2-s2.0-84860389457 10.1136/ard.2011.152728
-
(2011)
Annals of the Rheumatic Diseases
, vol.70
, Issue.12
, pp. 2095-2102
-
-
Kuemmerle-Deschner, J.B.1
Hachulla, E.2
Cartwright, R.3
Hawkins, P.N.4
Tran, T.A.5
Bader-Meunier, B.6
Hoyer, J.7
Gattorno, M.8
Gul, A.9
Smith, J.10
Leslie, K.S.11
Jiménez, S.12
Morell-Dubois, S.13
Davis, N.14
Patel, N.15
Widmer, A.16
Preiss, R.17
Lachmann, H.J.18
-
101
-
-
49449094179
-
Efficacy and safety of rilonacept (Interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies
-
2-s2.0-49449094179 10.1002/art.23687
-
Hoffman H. M., Throne M. L., Amar N. J., Sebai M., Kivitz A. J., Kavanaugh A., Weinstein S. P., Belomestnov P., Yancopoulos G. D., Stahl N., Mellis S. J., Efficacy and safety of rilonacept (Interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis and Rheumatism 2008 58 8 2443 2452 2-s2.0-49449094179 10.1002/art.23687
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.8
, pp. 2443-2452
-
-
Hoffman, H.M.1
Throne, M.L.2
Amar, N.J.3
Sebai, M.4
Kivitz, A.J.5
Kavanaugh, A.6
Weinstein, S.P.7
Belomestnov, P.8
Yancopoulos, G.D.9
Stahl, N.10
Mellis, S.J.11
-
102
-
-
0022347689
-
Mevalonic aciduria: An inborn error of cholesterol biosynthesis?
-
DOI 10.1016/0009-8981(85)90195-0
-
Berger R., Smit G. P. A., Schierbeek H., Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clinica Chimica Acta 1985 152 1-2 219 222 2-s2.0-0022347689 (Pubitemid 16233209)
-
(1985)
Clinica Chimica Acta
, vol.152
, Issue.1-2
, pp. 219-222
-
-
Berger, R.1
Smit, G.P.A.2
Schierbeek, H.3
-
103
-
-
58149195381
-
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
-
2-s2.0-58149195381 10.1097/MD.0b013e318190cfb7
-
Van Der Hilst J. C. H., Bodar E. J., Barron K. S., Frenkel J., Drenth J. P. H., Van Der Meer J. W. M., Simon A., Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine 2008 87 6 301 310 2-s2.0-58149195381 10.1097/MD. 0b013e318190cfb7
-
(2008)
Medicine
, vol.87
, Issue.6
, pp. 301-310
-
-
Van Der Hilst, J.C.H.1
Bodar, E.J.2
Barron, K.S.3
Frenkel, J.4
Drenth, J.P.H.5
Van Der Meer, J.W.M.6
Simon, A.7
-
104
-
-
0034672705
-
Biochemical and genetic aspects of mevalonate kinase and its deficiency
-
2-s2.0-0034672705 10.1016/S1388-1981(00)00135-9
-
Houten S. M., Wanders R. J. A., Waterham H. R., Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochimica et Biophysica Acta 2000 1529 1-3 19 32 2-s2.0-0034672705 10.1016/S1388-1981(00)00135-9
-
(2000)
Biochimica et Biophysica Acta
, vol.1529
, Issue.1-3
, pp. 19-32
-
-
Houten, S.M.1
Wanders, R.J.A.2
Waterham, H.R.3
-
105
-
-
68849116499
-
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
-
2-s2.0-68849116499 10.3899/jrheum.081313
-
Steichen O., Van Der Hilst J., Simon A., Cuisset L., Grateau G., A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. Journal of Rheumatology 2009 36 8 1677 1681 2-s2.0-68849116499 10.3899/jrheum.081313
-
(2009)
Journal of Rheumatology
, vol.36
, Issue.8
, pp. 1677-1681
-
-
Steichen, O.1
Van Der Hilst, J.2
Simon, A.3
Cuisset, L.4
Grateau, G.5
-
107
-
-
33847068680
-
First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome
-
2-s2.0-33847068680 10.1002/art.22409
-
Rigante D., Capoluongo E., Bertoni B., Ansuini V., Chiaretti A., Piastra M., Pulitanò S., Genovese O., Compagnone A., Stabile A., First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis and Rheumatism 2007 56 2 658 661 2-s2.0-33847068680 10.1002/art.22409
-
(2007)
Arthritis and Rheumatism
, vol.56
, Issue.2
, pp. 658-661
-
-
Rigante, D.1
Capoluongo, E.2
Bertoni, B.3
Ansuini, V.4
Chiaretti, A.5
Piastra, M.6
Pulitanò, S.7
Genovese, O.8
Compagnone, A.9
Stabile, A.10
-
108
-
-
34248325296
-
Mevalonate kinase deficiencies: From mevalonic aciduria to hyperimmunoglobulinemia D syndrome
-
2-s2.0-34248325296 10.1186/1750-1172-1-13
-
Haas D., Hoffmann G. F., Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet Journal of Rare Diseases 2006 1 1, article 13 2-s2.0-34248325296 10.1186/1750-1172-1-13
-
(2006)
Orphanet Journal of Rare Diseases
, vol.1
, Issue.1
-
-
Haas, D.1
Hoffmann, G.F.2
-
109
-
-
79959933887
-
Mevalonate kinase deficiency: A survey of 50 patients
-
10.1542/peds.2010-3639
-
Bader-Meunier B., Florkin B., Sibilia J., Acquaviva C., Hachulla E., Grateau G., Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 2011 128 e152 e159 10.1542/peds.2010-3639
-
(2011)
Pediatrics
, vol.128
-
-
Bader-Meunier, B.1
Florkin, B.2
Sibilia, J.3
Acquaviva, C.4
Hachulla, E.5
Grateau, G.6
-
110
-
-
84881453312
-
Biological treatments: New weapons in the management of monogenic autoinflammatory disorders
-
939847 10.1155/2013/939847
-
Vitale A., Rigante D., Lucherini O. M., Caso F., Muscari I., Magnotti F., Biological treatments: new weapons in the management of monogenic autoinflammatory disorders. Mediators of Inflammation 2013 2013 16 939847 10.1155/2013/939847
-
(2013)
Mediators of Inflammation
, vol.2013
, pp. 16
-
-
Vitale, A.1
Rigante, D.2
Lucherini, O.M.3
Caso, F.4
Muscari, I.5
Magnotti, F.6
-
111
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
DOI 10.1016/j.clpt.2004.01.012, PII S0009923604000372
-
Simon A., Drewe E., Van Der Meer J. W. M., Powell R. J., Kelley R. I., Stalenhoef A. F. H., Drenth J. P. H., Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clinical Pharmacology and Therapeutics 2004 75 5 476 483 2-s2.0-2042501706 10.1016/j.clpt.2004.01.012 (Pubitemid 38534568)
-
(2004)
Clinical Pharmacology and Therapeutics
, vol.75
, Issue.5
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Van Der Meer, J.W.M.3
Powell, R.J.4
Kelley, R.I.5
Stalenhoef, A.F.H.6
Drenth, J.P.H.7
-
112
-
-
84867131436
-
Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency
-
10.1093/rheumatology/kes097
-
Galeotti C., Meinzer U., Quartier P., Rossi-Semerano L., Bader-Meunier B., Pillet P., Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatology 2012 51 10 1855 1859 10.1093/rheumatology/kes097
-
(2012)
Rheumatology
, vol.51
, Issue.10
, pp. 1855-1859
-
-
Galeotti, C.1
Meinzer, U.2
Quartier, P.3
Rossi-Semerano, L.4
Bader-Meunier, B.5
Pillet, P.6
-
113
-
-
51549087763
-
Hyperimmunoglobulinemia D and periodic fever syndrome; Treatment with etanercept and follow-up
-
2-s2.0-51549087763 10.1007/s10067-008-0911-3
-
Topalolu R., Ayaz N. A., Waterham H. R., Yüce A., Gumruk F., Sanal Ö., Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clinical Rheumatology 2008 27 10 1317 1320 2-s2.0-51549087763 10.1007/s10067-008-0911-3
-
(2008)
Clinical Rheumatology
, vol.27
, Issue.10
, pp. 1317-1320
-
-
Topalolu, R.1
Ayaz, N.A.2
Waterham, H.R.3
Yüce, A.4
Gumruk, F.5
Sanal, Ö.6
-
114
-
-
40349113175
-
Mutations in NALP12 cause hereditary periodic fever syndromes
-
DOI 10.1073/pnas.0708616105
-
Jéru I., Duquesnoy P., Fernandes-Alnemri T., Cochet E., Yu J. W., Lackmy-Port-Lis M., Grimprel E., Landman-Parker J., Hentgen V., Marlin S., McElreavey K., Sarkisian T., Grateau G., Alnemri E. S., Amselem S., Mutations in NALP12 cause hereditary periodic fever syndromes. Proceedings of the National Academy of Sciences of the United States of America 2008 105 5 1614 1619 2-s2.0-40349113175 10.1073/pnas.0708616105 (Pubitemid 351346563)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.5
, pp. 1614-1619
-
-
Jeru, I.1
Duquesnoy, P.2
Fernandes-Alnemri, T.3
Cochet, E.4
Yu, J.W.5
Lackmy-Port-Lis, M.6
Grimprel, E.7
Landman-Parker, J.8
Hentgen, V.9
Marlin, S.10
McElreavey, K.11
Sarkisian, T.12
Grateau, G.13
Alnemri, E.S.14
Amselem, S.15
-
115
-
-
79953702540
-
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
-
2-s2.0-79953702540 10.1002/art.30170
-
Borghini S., Tassi S., Chiesa S., Caroli F., Carta S., Caorsi R., Fiore M., Delfino L., Lasigliè D., Ferraris C., Traggiai E., Di Duca M., Santamaria G., D'Osualdo A., Tosca M., Martini A., Ceccherini I., Rubartelli A., Gattorno M., Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis and Rheumatism 2011 63 3 830 839 2-s2.0-79953702540 10.1002/art.30170
-
(2011)
Arthritis and Rheumatism
, vol.63
, Issue.3
, pp. 830-839
-
-
Borghini, S.1
Tassi, S.2
Chiesa, S.3
Caroli, F.4
Carta, S.5
Caorsi, R.6
Fiore, M.7
Delfino, L.8
Lasigliè, D.9
Ferraris, C.10
Traggiai, E.11
Di Duca, M.12
Santamaria, G.13
D'Osualdo, A.14
Tosca, M.15
Martini, A.16
Ceccherini, I.17
Rubartelli, A.18
Gattorno, M.19
-
116
-
-
79959840140
-
Role of interleukin-1 β in NLRP12 -associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy
-
2-s2.0-79959840140 10.1002/art.30378
-
Jéru I., Hentgen V., Normand S., Duquesnoy P., Cochet E., Delwail A., Grateau G., Marlin S., Amselem S., Lecron J.-C., Role of interleukin-1 β in NLRP12 -associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis and Rheumatism 2011 63 7 2142 2148 2-s2.0-79959840140 10.1002/art.30378
-
(2011)
Arthritis and Rheumatism
, vol.63
, Issue.7
, pp. 2142-2148
-
-
Jéru, I.1
Hentgen, V.2
Normand, S.3
Duquesnoy, P.4
Cochet, E.5
Delwail, A.6
Grateau, G.7
Marlin, S.8
Amselem, S.9
Lecron, J.-C.10
-
117
-
-
0022213722
-
Familial granulomatous arthritis, iritis, and rash
-
DOI 10.1016/S0022-3476(85)80394-2
-
Blau E. B., Familial granulomatous arthritis, iritis, and rash. Journal of Pediatrics 1985 107 5 689 693 2-s2.0-0022213722 (Pubitemid 16250502)
-
(1985)
Journal of Pediatrics
, vol.107
, Issue.5
, pp. 689-693
-
-
Blau, E.B.1
-
118
-
-
10144222650
-
Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis
-
Ohmen J. D., Yang H.-Y., Yamamoto K. K., Zhao H.-Y., Ma Y., Bentley L. G., Huang Z., Gerwehr S., Pressman S., McElree C., Targan S., Rotter J. I., Fischel-Ghodsian N., Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis. Human Molecular Genetics 1996 5 10 1679 1683 2-s2.0-10144222650 (Pubitemid 26328889)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.10
, pp. 1679-1683
-
-
Ohmen, J.D.1
Yang, H.-Y.2
Yamamoto, K.K.3
Zhao, H.-Y.4
Ma, Y.5
Bentley, L.G.6
Huang, Z.7
Gerwehr, S.8
Pressman, S.9
McElree, C.10
Targan, S.11
Rotter, J.I.12
Fischel-Ghodsian, N.13
-
119
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
DOI 10.1038/ng720
-
Miceli-Richard C., Lesage S., Rybojad M., Prieur A.-M., Manouvrier-Hanu S., Häfner R., Chamaillard M., Zouali H., Thomas G., Hugot J.-P., CARD15 mutations in Blau syndrome. Nature Genetics 2001 29 1 19 20 2-s2.0-17944372335 10.1038/ng720 (Pubitemid 32801800)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 19-20
-
-
Miceli-Richard, C.1
Lesage, S.2
Rybojad, M.3
Prieur, A.-M.4
Manouvrier-Hanu, S.5
Hafner, R.6
Chamaillard, M.7
Zouali, H.8
Thomas, G.9
Hugot, J.-P.10
-
120
-
-
0012722659
-
Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection
-
DOI 10.1074/jbc.C200651200
-
Girardin S. E., Boneca I. G., Viala J., Chamaillard M., Labigne A., Thomas G., Philpott D. J., Sansonetti P. J., Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. The Journal of Biological Chemistry 2003 278 11 8869 8872 2-s2.0-0012722659 10.1074/jbc.C200651200 (Pubitemid 36800360)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.11
, pp. 8869-8872
-
-
Girardin, S.E.1
Boneca, I.G.2
Viala, J.3
Chamaillard, M.4
Labigne, A.5
Thomas, G.6
Philpott, D.J.7
Sansonetti, P.J.8
-
121
-
-
58249095950
-
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis
-
2-s2.0-58249095950 10.1002/art.24134
-
Okafuji I., Nishikomori R., Kanazawa N., Kambe N., Fujisawa A., Yamazaki S., Saito M., Yoshioka T., Kawai T., Sakai H., Tanizaki H., Heike T., Miyachi Y., Nakahata T., Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis and Rheumatism 2009 60 1 242 250 2-s2.0-58249095950 10.1002/art.24134
-
(2009)
Arthritis and Rheumatism
, vol.60
, Issue.1
, pp. 242-250
-
-
Okafuji, I.1
Nishikomori, R.2
Kanazawa, N.3
Kambe, N.4
Fujisawa, A.5
Yamazaki, S.6
Saito, M.7
Yoshioka, T.8
Kawai, T.9
Sakai, H.10
Tanizaki, H.11
Heike, T.12
Miyachi, Y.13
Nakahata, T.14
-
122
-
-
66449110515
-
NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in Spain
-
2-s2.0-66449110515 10.1002/art.24533
-
Rosé C. D., Aróstegui J. I., Martin T. M., Espada G., Scalzi L., Yagüe J., Rosenbaum J. T., Modesto C., Arnal M. C., Merino R., García-Consuegra J., Silva M. A. C., Wouters C. H., NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis and Rheumatism 2009 60 6 1797 1803 2-s2.0-66449110515 10.1002/art.24533
-
(2009)
Arthritis and Rheumatism
, vol.60
, Issue.6
, pp. 1797-1803
-
-
Rosé, C.D.1
Aróstegui, J.I.2
Martin, T.M.3
Espada, G.4
Scalzi, L.5
Yagüe, J.6
Rosenbaum, J.T.7
Modesto, C.8
Arnal, M.C.9
Merino, R.10
García-Consuegra, J.11
Silva, M.A.C.12
Wouters, C.H.13
-
124
-
-
84866874147
-
Blau syndrome, clinical and genetic aspects
-
10.1016/j.autrev.2012.07.028
-
Sfriso P., Caso F., Tognon S., Galozzi P., Gava A., Punzi L., Blau syndrome, clinical and genetic aspects. Autoimmunity Reviews 2012 12 1 44 51 10.1016/j.autrev.2012.07.028
-
(2012)
Autoimmunity Reviews
, vol.12
, Issue.1
, pp. 44-51
-
-
Sfriso, P.1
Caso, F.2
Tognon, S.3
Galozzi, P.4
Gava, A.5
Punzi, L.6
-
127
-
-
1642537691
-
Childhood sarcoidosis in Denmark 1979-1994: Incidence, clinical features and laboratory results at presentation in 48 children
-
DOI 10.1080/08035250310007213
-
Hoffmann A. L., Milman N., Byg K.-E., Childhood sarcoidosis in Denmark 1979-1994: Incidence, clinical features and laboratory results at presentation in 48 children. Acta Paediatrica, International Journal of Paediatrics 2004 93 1 30 36 2-s2.0-1642537691 10.1080/08035250310007213 (Pubitemid 38134717)
-
(2004)
Acta Paediatrica, International Journal of Paediatrics
, vol.93
, Issue.1
, pp. 30-36
-
-
Hoffmann, A.L.1
Milman, N.2
Byg, K.-E.3
-
128
-
-
19944431022
-
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: Common genetic etiology with Blau syndrome
-
DOI 10.1182/blood-2004-07-2972
-
Kanazawa N., Okafuji I., Kambe N., Nishikomori R., Nakata-Hizume M., Nagai S., Fuji A., Yuasa T., Manki A., Sakurai Y., Nakajima M., Kobayashi H., Fujiwara I., Tsutsumi H., Utani A., Nishigori C., Heike T., Nakahata T., Miyachi Y., Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor- B activation: common genetic etiology with Blau syndrome. Blood 2005 105 3 1195 1197 2-s2.0-19944431022 10.1182/blood-2004-07-2972 (Pubitemid 40170893)
-
(2005)
Blood
, vol.105
, Issue.3
, pp. 1195-1197
-
-
Kanazawa, N.1
Okafuji, I.2
Kambe, N.3
Nishikomori, R.4
Nakata-Hizume, M.5
Nagai, S.6
Fuji, A.7
Yuasa, T.8
Manki, A.9
Sakurai, Y.10
Nakajima, M.11
Kobayashi, H.12
Fujiwara, I.13
Tsutsumi, H.14
Utani, A.15
Nishigori, C.16
Heike, T.17
Nakahata, T.18
Miyachi, Y.19
-
129
-
-
65649103757
-
A novel mutation in the NOD2 gene associated with Blau syndrome a Norwegian family with four affected members
-
2-s2.0-65649103757 10.1080/03009740802464194
-
Milman N., Ursin K., Rødevand E., Nielsen F. C., Hansen T. V. O., A novel mutation in the NOD2 gene associated with Blau syndrome a Norwegian family with four affected members. Scandinavian Journal of Rheumatology 2009 38 3 190 197 2-s2.0-65649103757 10.1080/03009740802464194
-
(2009)
Scandinavian Journal of Rheumatology
, vol.38
, Issue.3
, pp. 190-197
-
-
Milman, N.1
Ursin, K.2
Rødevand, E.3
Nielsen, F.C.4
Hansen, T.V.O.5
-
130
-
-
58149474704
-
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review
-
2-s2.0-58149474704 10.1016/j.autrev.2008.07.034
-
Punzi L., Furlan A., Podswiadek M., Gava A., Valente M., De Marchi M., Peserico A., Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmunity Reviews 2009 8 3 228 232 2-s2.0-58149474704 10.1016/j.autrev.2008.07.034
-
(2009)
Autoimmunity Reviews
, vol.8
, Issue.3
, pp. 228-232
-
-
Punzi, L.1
Furlan, A.2
Podswiadek, M.3
Gava, A.4
Valente, M.5
De Marchi, M.6
Peserico, A.7
-
131
-
-
0036895932
-
Multifocal choroiditis in patients with familial juvenile systemic granulomatosis
-
DOI 10.1016/S0002-9394(02)01709-9, PII S0002939402017099
-
Latkany P. A., Jabs D. A., Smith J. R., Rosenbaum J. T., Tessler H., Schwab I. R., Walton R. C., Thorne J. E., Maguire A. M., Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. American Journal of Ophthalmology 2002 134 6 897 904 2-s2.0-0036895932 10.1016/S0002-9394(02)01709-9 (Pubitemid 35425460)
-
(2002)
American Journal of Ophthalmology
, vol.134
, Issue.6
, pp. 897-904
-
-
Latkany, P.A.1
Jabs, D.A.2
Smith, J.R.3
Rosenbaum, J.T.4
Tessler, H.5
Schwab, I.R.6
Walton, R.C.7
Thorne, J.E.8
Maguire, A.M.9
-
132
-
-
33845707639
-
Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation
-
DOI 10.1111/j.1600-0463.2006.apm-522.x
-
Milman N., Andersen C. B., Hansen A., Van Overeem Hansen T., Nielsen F. C., Fledelius H., Ahrens P., Nielsen O. H., Favourable effect of TNF- α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS 2006 114 12 912 919 2-s2.0-33845707639 10.1111/j.1600-0463.2006.apm-522.x (Pubitemid 44967328)
-
(2006)
APMIS
, vol.114
, Issue.12
, pp. 912-919
-
-
Milman, N.1
Andersen, C.B.2
Hansen, A.3
Van Overeem Hansen, T.4
Nielsen, F.C.5
Fledelius, H.6
Ahrens, P.7
Nielsen, O.H.8
-
133
-
-
79956218796
-
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene
-
2-s2.0-79956218796 10.1016/j.jaapos.2011.02.004
-
Raiji V. R., Miller M. M., Jung L. K., Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. Journal of AAPOS 2011 15 2 205 207 2-s2.0-79956218796 10.1016/j.jaapos.2011.02.004
-
(2011)
Journal of AAPOS
, vol.15
, Issue.2
, pp. 205-207
-
-
Raiji, V.R.1
Miller, M.M.2
Jung, L.K.3
-
134
-
-
84873814538
-
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis
-
10.1002/art.37776
-
Simonini G., Xu Z., Caputo R., De Libero C., Pagnini I., Pascual V., Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. Arthritis & Rheumatism 2013 65 2 513 518 10.1002/art.37776
-
(2013)
Arthritis & Rheumatism
, vol.65
, Issue.2
, pp. 513-518
-
-
Simonini, G.1
Xu, Z.2
Caputo, R.3
De Libero, C.4
Pagnini, I.5
Pascual, V.6
-
135
-
-
0030804743
-
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
-
Llndor N. M., Arsenault T. M., Solomon H., Seidman C. E., McEvov M. T., A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clinic Proceedings 1997 72 7 611 615 2-s2.0-0030804743 (Pubitemid 27330245)
-
(1997)
Mayo Clinic Proceedings
, vol.72
, Issue.7
, pp. 611-615
-
-
Llndor, N.M.1
Arsenault, T.M.2
Solomon, H.3
Seidman, C.E.4
McEvov, M.T.5
-
136
-
-
0033695228
-
Localization of a gene for familial recurrent arthritis
-
Wise C. A., Bennett L. B., Pascual V., Gillum J. D., Bowcock A. M., Localization of a gene for familial recurrent arthritis. Arthritis & Rheumatism 2000 43 2041 2045
-
(2000)
Arthritis & Rheumatism
, vol.43
, pp. 2041-2045
-
-
Wise, C.A.1
Bennett, L.B.2
Pascual, V.3
Gillum, J.D.4
Bowcock, A.M.5
-
137
-
-
0033912687
-
Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
-
DOI 10.1086/302866
-
Yeon H. B., Lindor N. M., Seidman J. G., Seidman C. E., Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. American Journal of Human Genetics 2000 66 4 1443 1448 2-s2.0-0033912687 10.1086/302866 (Pubitemid 30468802)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.4
, pp. 1443-1448
-
-
Yeon, H.B.1
Lindor, N.M.2
Seidman, J.G.3
Seidman, C.E.4
-
139
-
-
84861808859
-
Brief report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)
-
10.1002/art.34332
-
Demidowich A. P., Freeman A. F., Kuhns D. B., Aksentijevich I., Gallin J. I., Turner M. L., Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis & Rheumatism 2012 64 6 2022 2027 10.1002/art.34332
-
(2012)
Arthritis & Rheumatism
, vol.64
, Issue.6
, pp. 2022-2027
-
-
Demidowich, A.P.1
Freeman, A.F.2
Kuhns, D.B.3
Aksentijevich, I.4
Gallin, J.I.5
Turner, M.L.6
-
140
-
-
84874243013
-
Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment
-
10.1001/2013.jamadermatol.717
-
Geusau A., Mothes-Luksch N., Nahavandi H., Pickl W. F., Wise C. A., Pourpak Z., Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment. JAMA Dermatology 2013 149 2 209 215 10.1001/2013.jamadermatol.717
-
(2013)
JAMA Dermatology
, vol.149
, Issue.2
, pp. 209-215
-
-
Geusau, A.1
Mothes-Luksch, N.2
Nahavandi, H.3
Pickl, W.F.4
Wise, C.A.5
Pourpak, Z.6
-
141
-
-
0344823965
-
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
-
DOI 10.1073/pnas.2135380100
-
Shoham N. G., Centola M., Mansfield E., Hull K. M., Wood G., Wise C. A., Kastner D. L., Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proceedings of the National Academy of Sciences of the United States of America 2003 100 23 13501 13506 2-s2.0-0344823965 10.1073/pnas.2135380100 (Pubitemid 37444771)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.23
, pp. 13501-13506
-
-
Shoham, N.G.1
Centola, M.2
Mansfield, E.3
Hull, K.M.4
Wood, G.5
Wise, C.A.6
Kastner, D.L.7
-
142
-
-
0024466508
-
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings
-
Majeed H. A., Kalaawi M., Mohanty D., Teebi A. S., Tunjekar M. F., Al-Gharbawy F., Majeed S. A., Al-Gazzar A. H., Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. Journal of Pediatrics 1989 115 5 730 734 2-s2.0-0024466508 (Pubitemid 19270263)
-
(1989)
Journal of Pediatrics
, vol.115
, Issue.5
, pp. 730-734
-
-
Majeed, H.A.1
Kalaawi, M.2
Mohanty, D.3
Teebi, A.S.4
Tunjekar, M.F.5
Al-Gharbawy, F.6
Majeed, S.A.7
Al-Gazzar, A.H.8
-
143
-
-
22244469461
-
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
-
DOI 10.1136/jmg.2005.030759
-
Ferguson P. J., Chen S., Tayeh M. K., Ochoa L., Leal S. M., Pelet A., Munnich A., Lyonnet S., Majeed H. A., El-Shanti H., Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Journal of Medical Genetics 2005 42 7 551 557 2-s2.0-22244469461 10.1136/jmg.2005.030759 (Pubitemid 40993830)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.7
, pp. 551-557
-
-
Ferguson, P.J.1
Chen, S.2
Tayeh, M.K.3
Ochoa, L.4
Leal, S.M.5
Pelet, A.6
Munnich, A.7
Lyonnet, S.8
Majeed, H.A.9
El-Shanti, H.10
-
144
-
-
33947137738
-
A splice site mutation confirms the role of LPIN2 in Majeed syndrome
-
DOI 10.1002/art.22431
-
Al-Mosawi Z. S., Al-Saad K. K., Ijadi-Maghsoodi R., El-Shanti H. I., Ferguson P. J., A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis and Rheumatism 2007 56 3 960 964 2-s2.0-33947137738 10.1002/art.22431 (Pubitemid 46399443)
-
(2007)
Arthritis and Rheumatism
, vol.56
, Issue.3
, 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
-
145
-
-
84873726217
-
Efficacy of anti-IL-1 treatment in Majeed syndrome
-
10.1136/annrheumdis-2012-201818
-
Herlin T., Fiirgaard B., Bjerre M., Kerndrup G., Hasle H., Bing X., Efficacy of anti-IL-1 treatment in Majeed syndrome. Annals of the Rheumatic Diseases 2013 72 3 410 413 10.1136/annrheumdis-2012-201818
-
(2013)
Annals of the Rheumatic Diseases
, vol.72
, Issue.3
, pp. 410-413
-
-
Herlin, T.1
Fiirgaard, B.2
Bjerre, M.3
Kerndrup, G.4
Hasle, H.5
Bing, X.6
-
146
-
-
66649121678
-
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
-
2-s2.0-66649121678 10.1056/NEJMoa0807865
-
Aksentijevich I., Masters S. L., Ferguson P. J., Dancey P., Frenkel J., Van Royen-Kerkhoff A., Laxer R., Tedgård U., Cowen E. W., Pham T.-H., Booty M., Estes J. D., Sandler N. G., Plass N., Stone D. L., Turner M. L., Hill S., Butman J. A., Schneider R., Babyn P., El-Shanti H. I., Pope E., Barron K., Bing X., Laurence A., Lee C.-C. R., Chapelle D., Clarke G. I., Ohson K., Nicholson M., Gadina M., Yang B., Korman B. D., Gregersen P. K., Van Martin Hagen P., Hak A. E., Huizing M., Rahman P., Douek D. C., Remmers E. F., Kastner D. L., Goldbach-Mansky R., An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. The New England Journal of Medicine 2009 360 23 2426 2437 2-s2.0-66649121678 10.1056/NEJMoa0807865
-
(2009)
The New England Journal of Medicine
, vol.360
, Issue.23
, pp. 2426-2437
-
-
Aksentijevich, I.1
Masters, S.L.2
Ferguson, P.J.3
Dancey, P.4
Frenkel, J.5
Van Royen-Kerkhoff, A.6
Laxer, R.7
Tedgård, U.8
Cowen, E.W.9
Pham, T.-H.10
Booty, M.11
Estes, J.D.12
Sandler, N.G.13
Plass, N.14
Stone, D.L.15
Turner, M.L.16
Hill, S.17
Butman, J.A.18
Schneider, R.19
Babyn, P.20
El-Shanti, H.I.21
Pope, E.22
Barron, K.23
Bing, X.24
Laurence, A.25
Lee, C.-C.R.26
Chapelle, D.27
Clarke, G.I.28
Ohson, K.29
Nicholson, M.30
Gadina, M.31
Yang, B.32
Korman, B.D.33
Gregersen, P.K.34
Van Martin Hagen, P.35
Hak, A.E.36
Huizing, M.37
Rahman, P.38
Douek, D.C.39
Remmers, E.F.40
Kastner, D.L.41
Goldbach-Mansky, R.42
more..
-
147
-
-
82455210511
-
The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist
-
2-s2.0-82455210511 10.1002/art.30565
-
Stenerson M., Dufendach K., Aksentijevich I., Brady J., Austin J., Reed A. M., The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis and Rheumatism 2011 63 12 4018 4022 2-s2.0-82455210511 10.1002/art.30565
-
(2011)
Arthritis and Rheumatism
, vol.63
, Issue.12
, pp. 4018-4022
-
-
Stenerson, M.1
Dufendach, K.2
Aksentijevich, I.3
Brady, J.4
Austin, J.5
Reed, A.M.6
-
148
-
-
84863521758
-
Deficiency of interleukin-1-receptor antagonist syndrome: A rare auto-inflammatory condition that mimics multiple classic radiographic findings
-
2-s2.0-79960565644 10.1007/s00247-011-2208-y
-
Thacker P. G., Binkovitz L. A., Thomas K. B., Deficiency of interleukin-1-receptor antagonist syndrome: a rare auto-inflammatory condition that mimics multiple classic radiographic findings. Pediatric Radiology 2012 42 495 498 2-s2.0-79960565644 10.1007/s00247-011-2208-y
-
(2012)
Pediatric Radiology
, vol.42
, pp. 495-498
-
-
Thacker, P.G.1
Binkovitz, L.A.2
Thomas, K.B.3
|