-
1
-
-
0023720783
-
Autoinflammatory response to self-antigens of lymphoblasts
-
Klein I, Naor D (1988) Autoinflammatory response to self-antigens of lymphoblasts. Isr J Med Sci 24:373–375
-
(1988)
Isr J Med Sci
, vol.24
, pp. 373-375
-
-
Klein, I.1
Naor, D.2
-
2
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J et al (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133–144
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
-
3
-
-
44849122715
-
The infevers autoinflammatory mutation online registry: Update with new genes and functions
-
Milhavet F, Cuisset L, Hoffman HM et al (2008) The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 29:803–808
-
(2008)
Hum Mutat
, vol.29
, pp. 803-808
-
-
Milhavet, F.1
Cuisset, L.2
Hoffman, H.M.3
-
4
-
-
0037249569
-
INFEVERS: The registry for FMF and hereditary inflammatory disorders mutations
-
Sarrauste deMenthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I (2003) INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 31:282–285
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 282-285
-
-
Sarrauste Dementhiere, C.1
Terriere, S.2
Pugnere, D.3
Ruiz, M.4
Demaille, J.5
Touitou, I.6
-
5
-
-
4143125654
-
Infevers: An evolving mutation database for auto-inflammatory syndromes
-
Touitou I, Lesage S, McDermott M et al (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 24:194–198
-
(2004)
Hum Mutat
, vol.24
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.3
-
6
-
-
84863030888
-
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
-
Ombrello MJ, Remmers EF, Sun G et al (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl JMed 366:330–338
-
(2012)
N Engl Jmed
, vol.366
, pp. 330-338
-
-
Ombrello, M.J.1
Remmers, E.F.2
Sun, G.3
-
7
-
-
84867255789
-
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
-
Zhou Q, Lee GS, Brady J et al (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet 91:713–720
-
(2012)
Am J Hum Genet
, vol.91
, pp. 713-720
-
-
Zhou, Q.1
Lee, G.S.2
Brady, J.3
-
8
-
-
68049119930
-
An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum
-
McGonagle D, Aziz A, Dickie LJ, McDermott MF (2009) An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum. Pediatr Res 65:38R–45R
-
(2009)
Pediatr Res
, vol.65
, pp. 38R-45R
-
-
McGonagle, D.1
Aziz, A.2
Dickie, L.J.3
McDermott, M.F.4
-
9
-
-
84927126118
-
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
-
Canna SW, de Jesus AA, Gouni S et al (2014) An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet 46:1140–1146
-
(2014)
Nat Genet
, vol.46
, pp. 1140-1146
-
-
Canna, S.W.1
de Jesus, A.A.2
Gouni, S.3
-
10
-
-
84922008927
-
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
-
Romberg N, Al Moussawi K, Nelson-Williams C et al (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46:1135–1139
-
(2014)
Nat Genet
, vol.46
, pp. 1135-1139
-
-
Romberg, N.1
Al Moussawi, K.2
Nelson-Williams, C.3
-
11
-
-
0036671894
-
The inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
-
Martinon F, Burns K, Tschopp J (2002) The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 10:417–426
-
(2002)
Mol Cell
, vol.10
, pp. 417-426
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
12
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
Feldmann J, Prieur AM, Quartier P et al (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71:198–203
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
-
13
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
-
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29:301–305
-
(2001)
Nat Genet
, vol.29
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
14
-
-
66649102432
-
Use of canakinumab in the cryopyrin-associated periodic syndrome
-
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB et al (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 360:2416–2425
-
(2009)
N Engl J Med
, vol.360
, pp. 2416-2425
-
-
Lachmann, H.J.1
Kone-Paut, I.2
Kuemmerle-Deschner, J.B.3
-
15
-
-
0035851284
-
Genetic analysis as a valuable key to diagnosis and treatment of periodic fever
-
Simon A, van Deuren M, Tighe PJ, van der Meer JW, Drenth JP (2001) Genetic analysis as a valuable key to diagnosis and treatment of periodic fever. Arch Intern Med 161:2491–2493
-
(2001)
Arch Intern Med
, vol.161
, pp. 2491-2493
-
-
Simon, A.1
van Deuren, M.2
Tighe, P.J.3
van der Meer, J.W.4
Drenth, J.P.5
-
16
-
-
84868475244
-
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population
-
Federici S, Calcagno G, Finetti M et al (2012) Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis 71: 1961–1965
-
(2012)
Ann Rheum Dis
, vol.71
, pp. 1961-1965
-
-
Federici, S.1
Calcagno, G.2
Finetti, M.3
-
17
-
-
84878558322
-
Familial Mediterranean fever in heterozygotes: Are we able to accurately diagnose the disease in very young children?
-
Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jeru I (2013) Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum 65:1654–1662
-
(2013)
Arthritis Rheum
, vol.65
, pp. 1654-1662
-
-
Hentgen, V.1
Grateau, G.2
Stankovic-Stojanovic, K.3
Amselem, S.4
Jeru, I.5
-
18
-
-
84875963811
-
Treatment of autoinflammatory diseases: Results from the Eurofever Registry and a literature review
-
Ter Haar N, Lachmann H, Ozen S et al (2012) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678–685
-
(2012)
Ann Rheum Dis
, vol.72
, pp. 678-685
-
-
Ter Haar, N.1
Lachmann, H.2
Ozen, S.3
-
19
-
-
34248325296
-
Mevalonate kinase deficiencies: From mevalonic aciduria to hyperimmunoglobulinemia D syndrome
-
Haas D, Hoffmann GF (2006) Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 1:13
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 13
-
-
Haas, D.1
Hoffmann, G.F.2
-
20
-
-
84888002927
-
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa
-
Siemiatkowska AM, van den Born LI, van Hagen PM et al (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 120:2697–2705
-
(2013)
Ophthalmology
, vol.120
, pp. 2697-2705
-
-
Siemiatkowska, A.M.1
van den Born, L.I.2
Van Hagen, P.M.3
-
21
-
-
84866933028
-
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
-
Zhang SQ, Jiang T, Li M et al (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 44:1156–1160
-
(2012)
Nat Genet
, vol.44
, pp. 1156-1160
-
-
Zhang, S.Q.1
Jiang, T.2
Li, M.3
-
22
-
-
84922375101
-
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
-
de Koning HD, van Gijn ME, Stoffels M et al (2014) Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol 135:561–564
-
(2014)
J Allergy Clin Immunol
, vol.135
, pp. 561-564
-
-
de Koning, H.D.1
van Gijn, M.E.2
Stoffels, M.3
-
23
-
-
80051470107
-
Genetics of monogenic autoinflammatory diseases: Past successes, future challenges
-
Aksentijevich I, Kastner DL (2011) Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 7:469–478
-
(2011)
Nat Rev Rheumatol
, vol.7
, pp. 469-478
-
-
Aksentijevich, I.1
Kastner, D.L.2
-
24
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
Liu Y, Jesus AA, Marrero B et al (2014) Activated STING in a vascular and pulmonary syndrome. N Engl J Med 371:507–518
-
(2014)
N Engl J Med
, vol.371
, pp. 507-518
-
-
Liu, Y.1
Jesus, A.A.2
Marrero, B.3
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