-
1
-
-
0001219116
-
Periodic disease; a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia
-
Reimann HA. Periodic disease; a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. J Am Med Assoc. 1948;136(4):239-244.
-
(1948)
J Am Med Assoc
, vol.136
, Issue.4
, pp. 239-244
-
-
Reimann, H.A.1
-
2
-
-
78651002914
-
Periodic (cyclic) neutropenia, an entity; a collection of 16 cases
-
Reimann HA, DeBerardinis CT. Periodic (cyclic) neutropenia, an entity; a collection of 16 cases. Blood. 1949;4(10):1109-1116.
-
(1949)
Blood
, vol.4
, Issue.10
, pp. 1109-1116
-
-
Reimann, H.A.1
DeBerardinis, C.T.2
-
3
-
-
0034091243
-
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
-
DOI 10.1038/sj.ejhg.5200446
-
Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet. 2000;8(4):307-310. (Pubitemid 30336185)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.4
, pp. 307-310
-
-
Stoffman, N.1
Magal, N.2
Shohat, T.3
Lotan, R.4
Koman, S.5
Oron, A.6
Danon, Y.7
Halpern, G.J.8
Lifshitz, Y.9
Shohat, M.10
-
4
-
-
12344314454
-
Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study
-
DOI 10.1097/01.md.0000152370.84628.0c
-
Tunca M, Akar S, Onen F, et al.; Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84(1):1-11. (Pubitemid 40130180)
-
(2005)
Medicine
, vol.84
, Issue.1
, pp. 1-11
-
-
Tunca, M.1
-
5
-
-
77950334703
-
Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever
-
Kallinich T, Wittkowski H, Keitzer R, Roth J, Foell D. Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever. Ann Rheum Dis. 2010;69(4):677-682.
-
(2010)
Ann Rheum Dis
, vol.69
, Issue.4
, pp. 677-682
-
-
Kallinich, T.1
Wittkowski, H.2
Keitzer, R.3
Roth, J.4
Foell, D.5
-
6
-
-
5444253280
-
The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: A double-blind, placebo-controlled trial
-
Tunca M, Akar S, Soytürk M, et al. The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: A double-blind, placebo-controlled trial. Clin Exp Rheumatol. 2004;22(4 Suppl 34):S37-S40.
-
(2004)
Clin Exp Rheumatol
, vol.22
, Issue.4 SUPPL. 34
-
-
Tunca, M.1
Akar, S.2
Soytürk, M.3
-
7
-
-
33750738072
-
Treatment options in colchicine resistant familial Mediterranean fever patients: Thalidomide and etanercept as adjunctive agents
-
Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006;24(5 Suppl 42):S99-S103. (Pubitemid 44696888)
-
(2006)
Clinical and Experimental Rheumatology
, vol.24
, Issue.5 SUPPL. 42
-
-
Seyahi, E.1
Ozdogan, H.2
Celik, S.3
Ugurlu, S.4
Yazici, H.5
-
8
-
-
33846117487
-
Selective serotonin reuptake inhibitors reduce the attack frequency in Familial Mediterranean Fever
-
DOI 10.1620/tjem.211.9
-
Onat AM, Oztürk MA, Ozçakar L et al. Selective serotonin reuptake inhibitors reduce the attack frequency in familial Mediterranean fever. Tohoku J Exp Med. 2007;211(1):9-14. (Pubitemid 46062215)
-
(2007)
Tohoku Journal of Experimental Medicine
, vol.211
, Issue.1
, pp. 9-14
-
-
Onat, A.M.1
Ozturk, M.A.2
Ozcakar, L.3
Ureten, K.4
Kaymak, S.U.5
Kiraz, S.6
Ertenli, I.7
Calguneri, M.8
-
9
-
-
0037300287
-
Carrier frequency of the V3771 (1129G>A) MVK mutation, associated with hyper-IgD and periodic fever syndrome, in the Netherlands
-
DOI 10.1038/sj.ejhg.5200933
-
Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet. 2003;11(2):196-200. (Pubitemid 36372395)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.2
, pp. 196-200
-
-
Houten, S.M.1
Van, W.C.S.2
Wijburg, F.A.3
Wanders, R.J.A.4
Waterham, H.R.5
-
10
-
-
58149195381
-
Et al; International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
-
van der Hilst JC, Bodar EJ, Barron KS, et al; International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008;87(6):301-310.
-
(2008)
Medicine (Baltimore)
, vol.87
, Issue.6
, pp. 301-310
-
-
Van Der Hilst, J.C.1
Bodar, E.J.2
Barron, K.S.3
-
11
-
-
68849116499
-
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
-
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. J Rheumatol. 2009;36(8):1677-1681.
-
(2009)
J Rheumatol
, vol.36
, Issue.8
, pp. 1677-1681
-
-
Steichen, O.1
Van Der Hilst, J.2
Simon, A.3
Cuisset, L.4
Grateau, G.5
-
12
-
-
0034888835
-
Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: A randomized, double-blind, placebo-controlled trial
-
Drenth JP, Vonk AG, Simon A, Powell R, van der Meer JW. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther. 2001;298(3):1221-1226. (Pubitemid 32761943)
-
(2001)
Journal of Pharmacology and Experimental Therapeutics
, vol.298
, Issue.3
, pp. 1221-1226
-
-
Drenth, J.P.H.1
Vonk, A.G.2
Simon, A.3
Powell, R.4
Van, D.M.J.W.M.5
-
13
-
-
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 JW, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther. 2004;75(5):476-483. (Pubitemid 38534568)
-
(2004)
Clinical Pharmacology and Therapeutics
, vol.75
, Issue.5
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Van, D.M.J.W.M.3
Powell, R.J.4
Kelley, R.I.5
Stalenhoef, A.F.H.6
Drenth, J.P.H.7
-
14
-
-
23844552119
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
-
Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63(7):260-264. (Pubitemid 41179436)
-
(2005)
Netherlands Journal of Medicine
, vol.63
, Issue.7
, pp. 260-264
-
-
Bodar, E.J.1
Van, D.H.J.C.H.2
Drenth, J.P.H.3
Van, D.M.J.W.M.4
Simon, A.5
-
15
-
-
33750489045
-
Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome
-
DOI 10.1007/s00296-006-0164-x
-
Rigante D, Ansuini V, Bertoni B, Pugliese AL, Avallone L, Federico G, Stabile A. Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol Int. 2006;27(1):97-100. (Pubitemid 44655757)
-
(2006)
Rheumatology International
, vol.27
, Issue.1
, pp. 97-100
-
-
Rigante, D.1
Ansuini, V.2
Bertoni, B.3
Pugliese, A.L.4
Avallone, L.5
Federico, G.6
Stabile, A.7
-
16
-
-
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, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotypephenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 2001;69(2):301-314. (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
-
17
-
-
0036733312
-
The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
-
Hull KM, Drewe E, Aksentijevich I, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002;81(5):349-368.
-
(2002)
Medicine (Baltimore)
, vol.81
, Issue.5
, pp. 349-368
-
-
Hull, K.M.1
Drewe, E.2
Aksentijevich, I.3
-
18
-
-
3843110981
-
Beneficial response to interleukin 1 receptor antagonist in traps [2]
-
PII S0002934304002554
-
Simon A, Bodar EJ, van der Hilst JC, et al. Beneficial response to interleukin 1 receptor antagonist in traps. Am J Med. 2004;117(3):208-210. (Pubitemid 39055877)
-
(2004)
American Journal of Medicine
, vol.117
, Issue.3
, pp. 208-210
-
-
Simon, A.1
Bodar, E.J.2
Van, D.H.J.C.H.3
Van, D.M.J.W.M.4
Fiselier, T.J.W.5
Cuppen, M.P.J.M.6
Drenth, J.P.H.7
-
19
-
-
43949128071
-
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
-
DOI 10.1002/art.23475
-
Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58(5):1516-1520. (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
-
20
-
-
33646822974
-
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 Mutations
-
DOI 10.1016/j.jpeds.2005.12.029, PII S002234760501190X
-
Boxer LA, Stein S, Buckley D, Bolyard AA, Dale DC. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. J Pediatr. 2006 May;148(5):633-636. (Pubitemid 43776884)
-
(2006)
Journal of Pediatrics
, vol.148
, Issue.5
, pp. 633-636
-
-
Boxer, L.A.1
Stein, S.2
Buckley, D.3
Bolyard, A.A.4
Dale, D.C.5
-
22
-
-
0024360994
-
Treatment of cyclic neutropenia with granulocyte colony-stimulating factor
-
Hammond WP 4th, Price TH, Souza LM, Dale DC. Treatment of cyclic neutropenia with granulocyte colony-stimulating factor. N Engl J Med. 1989;320(20):1306-1311. (Pubitemid 19140405)
-
(1989)
New England Journal of Medicine
, vol.320
, Issue.20
, pp. 1306-1311
-
-
Hammond IV, W.P.1
Price, T.H.2
Souza, L.M.3
Dale, D.C.4
-
23
-
-
0037792866
-
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
-
Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003;348(25):2583-2584.
-
(2003)
N Engl J Med
, vol.348
, Issue.25
, pp. 2583-2584
-
-
Hawkins, P.N.1
Lachmann, H.J.2
McDermott, M.F.3
-
24
-
-
1042290321
-
Spectrum of Clinical Features in Muckle-Wells Syndrome and Response to Anakinra
-
DOI 10.1002/art.20033
-
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50(2):607-612. (Pubitemid 38198844)
-
(2004)
Arthritis and Rheumatism
, vol.50
, Issue.2
, pp. 607-612
-
-
Hawkins, P.N.1
Lachmann, H.J.2
Aganna, E.3
McDermott, M.F.4
-
25
-
-
20844443726
-
Interleukin-1 receptor antagonist anakinra in the treatment of neonatal onset multisystem inflammatory disease
-
Dailey NJ, Aksentijevich I, Chae JJ, et al. Interleukin-1 receptor antagonist anakinra in the treatment of neonatal onset multisystem inflammatory disease. Arthritis Rheum. 2004;50:S440.
-
(2004)
Arthritis Rheum
, vol.50
-
-
Dailey, N.J.1
Aksentijevich, I.2
Chae, J.J.3
-
26
-
-
33746876396
-
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
-
DOI 10.1056/NEJMoa055137
-
Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581-592. (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..
-
27
-
-
77951025793
-
MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA
-
Dagan E, Gershoni-Baruch R, Khatib I, Mori A, Brik R. MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatol Int. 2010;30(5):633-636.
-
(2010)
Rheumatol Int
, vol.30
, Issue.5
, pp. 633-636
-
-
Dagan, E.1
Gershoni-Baruch, R.2
Khatib, I.3
Mori, A.4
Brik, R.5
-
28
-
-
70349741038
-
Differentiating PFAPA syndrome from monogenic periodic fevers
-
Gattorno M, Caorsi R, Meini A, et al. Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics. 2009;124(4):e721-e728.
-
(2009)
Pediatrics
, vol.124
, Issue.4
-
-
Gattorno, M.1
Caorsi, R.2
Meini, A.3
-
29
-
-
77956835665
-
PFAPA syndrome is not a sporadic disease
-
Cochard M, Clet J, Le L, et al. PFAPA syndrome is not a sporadic disease. Rheumatology (Oxford). 2010;49(10):1984-1987.
-
(2010)
Rheumatology (Oxford)
, vol.49
, Issue.10
, pp. 1984-1987
-
-
Cochard, M.1
Clet, J.2
Le, L.3
-
30
-
-
63449118441
-
Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome
-
Sampaio IC, Rodrigo MJ, Monteiro Marques JG. Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. Pediatr Infect Dis J. 2009;28(3):254-255.
-
(2009)
Pediatr Infect Dis J
, vol.28
, Issue.3
, pp. 254-255
-
-
Sampaio, I.C.1
Rodrigo, M.J.2
Monteiro Marques, J.G.3
-
31
-
-
69949145563
-
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings
-
Valenzuela PM, Majerson D, Tapia JL, Talesnik E. Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. Clin Rheumatol. 2009;28(10):1235-1237.
-
(2009)
Clin Rheumatol
, vol.28
, Issue.10
, pp. 1235-1237
-
-
Valenzuela, P.M.1
Majerson, D.2
Tapia, J.L.3
Talesnik, E.4
-
33
-
-
0033497857
-
Periodic fever syndrome in children
-
Thomas KT, Feder HM Jr, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135(1):15-21. (Pubitemid 30180556)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.1
, pp. 15-21
-
-
Thomas, K.T.1
Feder Jr., H.M.2
Lawton, A.R.3
Edwards, K.M.4
-
34
-
-
33747468990
-
Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced antiinflammatory response
-
Stojanov S, Hoffmann F, Kéry A, et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced antiinflammatory response. Eur Cytokine Netw. 2006;17(2):90-97.
-
(2006)
Eur Cytokine Netw
, vol.17
, Issue.2
, pp. 90-97
-
-
Stojanov, S.1
Hoffmann, F.2
Kéry, A.3
-
35
-
-
67651085319
-
Effectiveness of adenotonsillectomy in PFAPA syndrome: A randomized study
-
Garavello W, Romagnoli M, Gaini RM. Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study. J Pediatr. 2009;155(2):250-253.
-
(2009)
J Pediatr
, vol.155
, Issue.2
, pp. 250-253
-
-
Garavello, W.1
Romagnoli, M.2
Gaini, R.M.3
-
36
-
-
34548050230
-
A Randomized, Controlled Trial of Tonsillectomy in Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome
-
DOI 10.1016/j.jpeds.2007.03.015, PII S002234760700251X
-
Renko M, Salo E, Putto-Laurila A, et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J Pediatr. 2007;151(3):289-292. (Pubitemid 47284127)
-
(2007)
Journal of Pediatrics
, vol.151
, Issue.3
, pp. 289-292
-
-
Renko, M.1
Salo, E.2
Putto-Laurila, A.3
Saxen, H.4
Mattila, P.S.5
Luotonen, J.6
Ruuskanen, O.7
Uhari, M.8
-
37
-
-
77957931926
-
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA)
-
CD008669
-
Burton MJ, Pollard AJ, Ramsden JD. Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). Cochrane Database Syst Rev. 2010;(9):CD008669.
-
(2010)
Cochrane Database Syst Rev
, Issue.9
-
-
Burton, M.J.1
Pollard, A.J.2
Ramsden, J.D.3
-
38
-
-
45349095718
-
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
-
DOI 10.1002/art.23474
-
Gattorno M, Sormani MP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008;58(6):1823-1832. (Pubitemid 351847537)
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.6
, pp. 1823-1832
-
-
Gattorno, M.1
Sormani, M.P.2
D'Osualdo, A.3
Pelagatti, M.A.4
Caroli, F.5
Federici, S.6
Cecconi, M.7
Solari, N.8
Meini, A.9
Zulian, F.10
Obici, L.11
Breda, L.12
Martino, S.13
Tommasini, A.14
Bossi, G.15
Govers, A.16
Touitou, I.17
Woo, P.18
Frenkel, J.19
Kone-Paut, I.20
Baldi, M.21
Ceccherini, I.22
Martini, A.23
more..
-
39
-
-
13444249533
-
The pyrin family of fever genes: Unmasking genetic determinants of autoinflammatory disease
-
DOI 10.1001/archderm.141.2.242
-
Shinkai K, Kilcline C, Connolly MK, Frieden IJ. The pyrin family of fever genes: unmasking genetic determinants of autoinflammatory disease. Arch Dermatol. 2005;141(2):242-247. (Pubitemid 40216267)
-
(2005)
Archives of Dermatology
, vol.141
, Issue.2
, pp. 242-247
-
-
Shinkai, K.1
Kilcline, C.2
Connolly, M.K.3
Frieden, I.J.4
|