-
1
-
-
0033515520
-
Germlinemutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF et al (1999) Germlinemutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97(1): 133-144
-
(1999)
Cell
, vol.97
, Issue.1
, pp. 133-144
-
-
McDermott, M.F.1
-
2
-
-
84869383562
-
HOIL and water: The two faces of HOIL-1 deficiency
-
Ombrello MJ, Kastner DL, Milner JD (2012) HOIL and water: the two faces of HOIL-1 deficiency. Nat Immunol 13(12):1133-1135
-
(2012)
Nat Immunol
, vol.13
, Issue.12
, pp. 1133-1135
-
-
Ombrello, M.J.1
Kastner, D.L.2
Milner, J.D.3
-
3
-
-
84869429707
-
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
-
Boisson B et al (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 13(12):1178-1186
-
(2012)
Nat Immunol
, vol.13
, Issue.12
, pp. 1178-1186
-
-
Boisson, B.1
-
4
-
-
84900791985
-
International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: Description of distinct phenotypes in 301 patients
-
Hofer M et al (2014) International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatology (Oxford) 53(6): 1125-1129
-
(2014)
Rheumatology (Oxford)
, vol.53
, Issue.6
, pp. 1125-1129
-
-
Hofer, M.1
-
5
-
-
84899587113
-
SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome
-
Bens S et al (2014) SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome. Genes Immun 15(3):190-194
-
(2014)
Genes Immun
, vol.15
, Issue.3
, pp. 190-194
-
-
Bens, S.1
-
6
-
-
33644687167
-
Pathogenesis of parvovirus B19 infection: Host gene variability, and possiblemeans and effects of virus persistence
-
Kerr JR (2005) Pathogenesis of parvovirus B19 infection: host gene variability, and possiblemeans and effects of virus persistence. JVet Med B Infect Dis Vet Public Health 52(7-8):335-339
-
(2005)
Jvet Med B Infect Dis Vet Public Health
, vol.52
, Issue.7-8
, pp. 335-339
-
-
Kerr, J.R.1
-
7
-
-
84878562491
-
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL- 1beta production
-
Kolly L et al (2013) Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL- 1beta production. J Allergy Clin Immunol 131(6):1635-1643
-
(2013)
J Allergy Clin Immunol
, vol.131
, Issue.6
, pp. 1635-1643
-
-
Kolly, L.1
-
8
-
-
84886799144
-
Increased intracellular oxygen radical production in neutrophils during febrile episodes of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome
-
Sundqvist M et al (2013) Increased intracellular oxygen radical production in neutrophils during febrile episodes of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. Arthritis Rheum 65(11):2971-2983
-
(2013)
Arthritis Rheum
, vol.65
, Issue.11
, pp. 2971-2983
-
-
Sundqvist, M.1
-
9
-
-
22244469461
-
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
-
Ferguson PJ et al (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42(7):551-557
-
(2005)
J Med Genet
, vol.42
, Issue.7
, pp. 551-557
-
-
Ferguson, P.J.1
-
10
-
-
66649121678
-
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
-
Aksentijevich I et al (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 360(23):2426-2437
-
(2009)
N Engl J Med
, vol.360
, Issue.23
, pp. 2426-2437
-
-
Aksentijevich, I.1
-
11
-
-
84888986367
-
Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
-
Reiff A et al (2013) Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease. J Clin Immunol 33(8):1289-1292
-
(2013)
J Clin Immunol
, vol.33
, Issue.8
, pp. 1289-1292
-
-
Reiff, A.1
-
12
-
-
33645734214
-
Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease
-
Grosse J et al (2006) Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 107(8):3350-3358
-
(2006)
Blood
, vol.107
, Issue.8
, pp. 3350-3358
-
-
Grosse, J.1
-
13
-
-
29344448820
-
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
-
Ferguson PJ et al (2006) A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38(1):41-47
-
(2006)
Bone
, vol.38
, Issue.1
, pp. 41-47
-
-
Ferguson, P.J.1
-
14
-
-
84892917064
-
Inflammasome-independent IL-1beta mediates autoinflammatory disease in Pstpip2-deficient mice
-
Cassel SL et al (2014) Inflammasome-independent IL-1beta mediates autoinflammatory disease in Pstpip2-deficient mice. Proc Natl Acad Sci U S A 111(3):1072-1077
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, Issue.3
, pp. 1072-1077
-
-
Cassel, S.L.1
-
15
-
-
84923207808
-
Dietary modulation of the microbiome affects autoinflammatory disease
-
Lukens JR et al (2014) Dietary modulation of the microbiome affects autoinflammatory disease. Nature 516(7530):246-249
-
(2014)
Nature
, vol.516
, Issue.7530
, pp. 246-249
-
-
Lukens, J.R.1
-
16
-
-
84904102577
-
TH17 cells are increased in the peripheral blood of patients with SAPHO syndrome
-
Firinu D et al (2014) TH17 cells are increased in the peripheral blood of patients with SAPHO syndrome. Autoimmunity 47(6): 389-394
-
(2014)
Autoimmunity
, vol.47
, Issue.6
, pp. 389-394
-
-
Firinu, D.1
-
17
-
-
84865459912
-
Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression
-
Hofmann SR et al (2012) Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol 145(1):69-76
-
(2012)
Clin Immunol
, vol.145
, Issue.1
, pp. 69-76
-
-
Hofmann, S.R.1
-
18
-
-
84904273850
-
Deregulation of the IL-1beta axis in chronic recurrent multifocal osteomyelitis
-
Scianaro R et al (2014) Deregulation of the IL-1beta axis in chronic recurrent multifocal osteomyelitis. Pediatr Rheumatol Online J 12: 30
-
(2014)
Pediatr Rheumatol Online J
, vol.12
, pp. 30
-
-
Scianaro, R.1
-
19
-
-
0015926566
-
Letter: HL-A5 and Behcet’s disease
-
Ono S et al (1973) Letter: HL-A5 and Behcet’s disease. Lancet 2(7842):1383-1384
-
(1973)
Lancet
, vol.2
, Issue.7842
, pp. 1383-1384
-
-
Ono, S.1
-
20
-
-
84902584326
-
Behcet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity
-
Ombrello MJ et al (2014) Behcet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity. Proc Natl Acad Sci U S A 111(24):8867-8872
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, Issue.24
, pp. 8867-8872
-
-
Ombrello, M.J.1
-
21
-
-
84873091770
-
Genome-wide association analysis identifies new susceptibility loci for Behcet’s disease and epistasis between HLA-B*51 and ERAP1
-
Kirino Y et al (2013) Genome-wide association analysis identifies new susceptibility loci for Behcet’s disease and epistasis between HLA-B*51 and ERAP1. Nat Genet 45(2):202-207
-
(2013)
Nat Genet
, vol.45
, Issue.2
, pp. 202-207
-
-
Kirino, Y.1
-
22
-
-
78049347495
-
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
-
Genetic Analysis of Psoriasis, C et al (2010) A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 42(11):985-990
-
(2010)
Nat Genet
, vol.42
, Issue.11
, pp. 985-990
-
-
-
23
-
-
79960899377
-
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanismfor HLA-B27 in disease susceptibility
-
Evans DM et al (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanismfor HLA-B27 in disease susceptibility. Nat Genet 43(8):761-767
-
(2011)
Nat Gene
, vol.43
, Issue.8
, pp. 761-767
-
-
Evans, D.M.1
-
24
-
-
84871321221
-
Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis
-
Ruperto N et al (2012) Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med 367(25):2396-2406
-
(2012)
N Engl J Med
, vol.367
, Issue.25
, pp. 2396-2406
-
-
Ruperto, N.1
-
25
-
-
84871318830
-
Randomized trial of tocilizumab in systemic juvenile idiopathic arthritis
-
De Benedetti F et al (2012) Randomized trial of tocilizumab in systemic juvenile idiopathic arthritis. N Engl J Med 367(25): 2385-2395
-
(2012)
N Engl J Med
, vol.367
, Issue.25
, pp. 2385-2395
-
-
De Benedetti, F.1
-
26
-
-
85017733619
-
Genomewide association study of Still’s disease
-
Ombrello MJ et al (2013) Genomewide association study of Still’s disease. Pediatr Rheumatol 11(Suppl 1):A91
-
(2013)
Pediatr Rheumatol
, vol.11
, pp. A91
-
-
Ombrello, M.J.1
-
27
-
-
85017726733
-
Mutation of LACC1 is associated with a monogenic form of systemic juvenile idiopathic arthritis
-
Wakil SM, et al (2014) Mutation of LACC1 is associated with a monogenic form of systemic juvenile idiopathic arthritis. Arthritis Rheumatol
-
(2014)
Arthritis Rheumatol
-
-
Wakil, S.M.1
-
28
-
-
85047695184
-
Chronic recurrent multifocal osteomyelitis (CRMO): Evidence for a susceptibility gene located on chromosome 18q21.3-18q22
-
Golla A et al (2002) Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 10(3):217-221
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.3
, pp. 217-221
-
-
Golla, A.1
-
29
-
-
20744432332
-
Whole-genome screening for susceptibility genes in multicase families with Behcet’s disease
-
Karasneh J et al (2005)Whole-genome screening for susceptibility genes in multicase families with Behcet’s disease. Arthritis Rheum 52(6):1836-1842
-
(2005)
Arthritis Rheum
, vol.52
, Issue.6
, pp. 1836-1842
-
-
Karasneh, J.1
-
30
-
-
78149265597
-
NEMO mutation as a cause of familial occurrence of Behcet’s disease in female patients
-
Takada H et al (2010) NEMO mutation as a cause of familial occurrence of Behcet’s disease in female patients. Clin Genet 78(6): 575-579
-
(2010)
Clin Genet
, vol.78
, Issue.6
, pp. 575-579
-
-
Takada, H.1
-
31
-
-
85017731242
-
Exome sequencing in monogenic Behçet-like disease
-
Zhou Q et al (2013) Exome sequencing in monogenic Behçet-like disease. Pediatr Rheumatol 11(Suppl 1):A184
-
(2013)
Pediatr Rheumatol
, vol.11
, pp. A184
-
-
Zhou, Q.1
-
32
-
-
77955087288
-
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet’s disease
-
Remmers EF et al (2010) Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet’s disease. Nat Genet 42(8):698-702
-
(2010)
Nat Genet
, vol.42
, Issue.8
, pp. 698-702
-
-
Remmers, E.F.1
-
33
-
-
77955091234
-
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet’s disease susceptibility loci
-
Mizuki N et al (2010) Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet’s disease susceptibility loci. Nat Genet 42(8):703-706
-
(2010)
Nat Genet
, vol.42
, Issue.8
, pp. 703-706
-
-
Mizuki, N.1
-
34
-
-
84877865074
-
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease
-
Kirino Y et al (2013) Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease. Proc Natl Acad Sci U S A 110(20):8134-8139
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.20
, pp. 8134-8139
-
-
Kirino, Y.1
-
35
-
-
84875341302
-
TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population
-
Li H et al (2013) TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population. Hum Genet 132(3): 293-300
-
(2013)
Hum Genet
, vol.132
, Issue.3
, pp. 293-300
-
-
Li, H.1
-
36
-
-
84897403547
-
TRAF5 and TRAF3IP2 gene polymorphisms are associated with Behcet’s disease and Vogt-Koyanagi-Harada syndrome: A case-control study
-
Xiang Q et al (2014) TRAF5 and TRAF3IP2 gene polymorphisms are associated with Behcet’s disease and Vogt-Koyanagi-Harada syndrome: a case-control study. PLoS ONE 9(1):e84214
-
(2014)
Plos ONE
, vol.9
, Issue.1
-
-
Xiang, Q.1
-
37
-
-
84922356203
-
FUT2: Filling the gap between genes and environment in Behcet’s disease?
-
Xavier JM et al (2015) FUT2: filling the gap between genes and environment in Behcet’s disease? Ann Rheum Dis 74(3):618-624
-
(2015)
Ann Rheum Dis
, vol.74
, Issue.3
, pp. 618-624
-
-
Xavier, J.M.1
|