-
1
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J et al (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
-
2
-
-
71149092284
-
Autoinflammation: The prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses
-
quiz 50-1
-
Goldbach-Mansky R, Kastner DL (2009) Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol 124:1141–1149, quiz 50-1
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 1141-1149
-
-
Goldbach-Mansky, R.1
Kastner, D.L.2
-
4
-
-
79955542915
-
A diverse range of gene products are effectors of the type I interferon antiviral response
-
Schoggins JW, Wilson SJ, Panis M et al (2011) A diverse range of gene products are effectors of the type I interferon antiviral response. Nature 472:481–485
-
(2011)
Nature
, vol.472
, pp. 481-485
-
-
Schoggins, J.W.1
Wilson, S.J.2
Panis, M.3
-
5
-
-
0037451167
-
Interferon and granulopoiesis signatures in systemic lupus erythematosus blood
-
Bennett L, Palucka AK, Arce E et al (2003) Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J ExpMed 197:711–723
-
(2003)
J Expmed
, vol.197
, pp. 711-723
-
-
Bennett, L.1
Palucka, A.K.2
Arce, E.3
-
6
-
-
78649775528
-
PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
-
Agarwal AK, Xing C, DeMartino GN et al (2010) PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 87:866–872
-
(2010)
Am J Hum Genet
, vol.87
, pp. 866-872
-
-
Agarwal, A.K.1
Xing, C.2
Demartino, G.N.3
-
7
-
-
80052565561
-
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
-
Arima K, Kinoshita A, Mishima H et al (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 108:14914–14919
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 14914-14919
-
-
Arima, K.1
Kinoshita, A.2
Mishima, H.3
-
8
-
-
80053397654
-
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
-
Kitamura A, Maekawa Y, Uehara H et al (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 121:4150–4160
-
(2011)
J Clin Invest
, vol.121
, pp. 4150-4160
-
-
Kitamura, A.1
Maekawa, Y.2
Uehara, H.3
-
9
-
-
84863232739
-
Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
-
Liu Y, Ramot Y, Torrelo A et al (2012) Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 64:895–907
-
(2012)
Arthritis Rheum
, vol.64
, pp. 895-907
-
-
Liu, Y.1
Ramot, Y.2
Torrelo, A.3
-
10
-
-
84919918303
-
Dual proteolytic pathways govern glycolysis and immune competence
-
Lu W, Zhang Y, McDonald DO et al (2014) Dual proteolytic pathways govern glycolysis and immune competence. Cell 159:1578–1590
-
(2014)
Cell
, vol.159
, pp. 1578-1590
-
-
Lu, W.1
Zhang, Y.2
McDonald, D.O.3
-
11
-
-
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
-
12
-
-
84915745085
-
Inherited STINGactivating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
-
Jeremiah N, Neven B, Gentili M et al (2014) Inherited STINGactivating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest 124:5516–5520
-
(2014)
J Clin Invest
, vol.124
, pp. 5516-5520
-
-
Jeremiah, N.1
Neven, B.2
Gentili, M.3
-
13
-
-
0021336060
-
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
-
Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54
-
(1984)
Ann Neurol
, vol.15
, pp. 49-54
-
-
Aicardi, J.1
Goutieres, F.2
-
14
-
-
84921417123
-
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH 1
-
Crow YJ, Chase DS, Lowenstein Schmidt J et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH 1. Am J Med Genet A 167A:296–312
-
(2015)
Am J Med Genet A
, vol.167
, pp. 296-312
-
-
Crow, Y.J.1
Chase, D.S.2
Lowenstein Schmidt, J.3
-
15
-
-
84899495767
-
Gain-offunction mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
-
Rice GI, del Toro Duany Y, Jenkinson EM et al (2014) Gain-offunction mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 46:503–509
-
(2014)
Nat Genet
, vol.46
, pp. 503-509
-
-
Rice, G.I.1
Del Toro Duany, Y.2
Jenkinson, E.M.3
-
16
-
-
84866748115
-
Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency
-
Bogunovic D, Byun M, Durfee LA et al (2012) Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science 337:1684–1688
-
(2012)
Science
, vol.337
, pp. 1684-1688
-
-
Bogunovic, D.1
Byun, M.2
Durfee, L.A.3
-
17
-
-
84922880395
-
Human intracellular ISG15 prevents interferon-alpha/beta overamplification and auto-inflammation
-
Zhang X, Bogunovic D, Payelle-Brogard B et al (2015) Human intracellular ISG15 prevents interferon-alpha/beta overamplification and auto-inflammation. Nature 517:89–93
-
(2015)
Nature
, vol.517
, pp. 89-93
-
-
Zhang, X.1
Bogunovic, D.2
Payelle-Brogard, B.3
-
18
-
-
79251551861
-
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
-
Briggs TA, Rice GI, Daly S et al (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet 43:127–131
-
(2011)
Nat Genet
, vol.43
, pp. 127-131
-
-
Briggs, T.A.1
Rice, G.I.2
Daly, S.3
-
19
-
-
79251564299
-
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
-
Lausch E, Janecke A, Bros M et al (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 43:132–137
-
(2011)
Nat Genet
, vol.43
, pp. 132-137
-
-
Lausch, E.1
Janecke, A.2
Bros, M.3
-
20
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp SE, Dufourcq-Lagelouse R, Le Deist F et al (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957–1959
-
(1999)
Science
, vol.286
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le Deist, F.3
-
22
-
-
21744452702
-
Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome
-
Villanueva J, Lee S, Giannini EH et al (2005) Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res Ther 7:R30–R37
-
(2005)
Arthritis Res Ther
, vol.7
, pp. R30-R37
-
-
Villanueva, J.1
Lee, S.2
Giannini, E.H.3
-
23
-
-
84912047373
-
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis
-
Kaufman KM, Linghu B, Szustakowski JD et al (2014) Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis. Arthritis Rheumatol 66:3486–3495
-
(2014)
Arthritis Rheumatol
, vol.66
, pp. 3486-3495
-
-
Kaufman, K.M.1
Linghu, B.2
Szustakowski, J.D.3
-
25
-
-
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
-
26
-
-
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
-
27
-
-
84896960661
-
Clinical manifestations of adult-onset still's disease presenting with erosive arthritis: Association with low levels of ferritin and IL-18
-
Ichida H, Kawaguchi Y, Sugiura T, et al. (2013) Clinical manifestations of adult-onset still's disease presenting with erosive arthritis: association with low levels of ferritin and IL-18. Arthritis care & Res 66:642–646
-
(2013)
Arthritis Care & Res
, vol.66
, pp. 642-646
-
-
Ichida, H.1
Kawaguchi, Y.2
Sugiura, T.3
-
28
-
-
84873184774
-
Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles
-
Shimizu M, Nakagishi Y, Yachie A (2013) Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles. Cytokine 61:345–348
-
(2013)
Cytokine
, vol.61
, pp. 345-348
-
-
Shimizu, M.1
Nakagishi, Y.2
Yachie, A.3
-
29
-
-
84911922142
-
An inherited mutation in NLRC4 causes autoinflammation in human and mice
-
Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K (2014) An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med 211:2385–2396
-
(2014)
J Exp Med
, vol.211
, pp. 2385-2396
-
-
Kitamura, A.1
Sasaki, Y.2
Abe, T.3
Kano, H.4
Yasutomo, K.5
-
30
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S, Fondaneche MC, Lambert N et al (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444:110–114
-
(2006)
Nature
, vol.444
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.C.2
Lambert, N.3
-
31
-
-
77956508441
-
XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
-
Marsh RA, Madden L, Kitchen BJ et al (2010) XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 116:1079–1082
-
(2010)
Blood
, vol.116
, pp. 1079-1082
-
-
Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
-
32
-
-
84914159176
-
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers
-
Aguilar C, Lenoir C, Lambert N, et al. (2014) Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J allergy and Clin Immunol 134:1131–1141
-
(2014)
J Allergy and Clin Immunol
, vol.134
, pp. 1131-1141
-
-
Aguilar, C.1
Lenoir, C.2
Lambert, N.3
-
33
-
-
84883228121
-
X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis
-
Speckmann C, Lehmberg K, Albert MH et al (2013) X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 149:133–141
-
(2013)
Clin Immunol
, vol.149
, pp. 133-141
-
-
Speckmann, C.1
Lehmberg, K.2
Albert, M.H.3
-
34
-
-
84888197109
-
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency
-
Wada T, Kanegane H, Ohta K et al (2014) Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine 65:74–78
-
(2014)
Cytokine
, vol.65
, pp. 74-78
-
-
Wada, T.1
Kanegane, H.2
Ohta, K.3
-
35
-
-
79960135473
-
Inhibitor of apoptosis (IAP) proteins in regulation of inflammation and innate immunity
-
Damgaard RB, Gyrd-Hansen M (2011) Inhibitor of apoptosis (IAP) proteins in regulation of inflammation and innate immunity. Discovery Med 11:221–231
-
(2011)
Discovery Med
, vol.11
, pp. 221-231
-
-
Damgaard, R.B.1
Gyrd-Hansen, M.2
-
36
-
-
84863000898
-
The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity
-
Damgaard RB, Nachbur U, Yabal M et al (2012) The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol Cell 46:746–758
-
(2012)
Mol Cell
, vol.46
, pp. 746-758
-
-
Damgaard, R.B.1
Nachbur, U.2
Yabal, M.3
-
37
-
-
84927628632
-
Molecular mechanisms in genetically defined autoinflammatory diseases: Disorders of amplified danger signaling
-
de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R. (2015) Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol 33:823–874
-
(2015)
Annu Rev Immunol
, vol.33
, pp. 823-874
-
-
De Jesus, A.A.1
Canna, S.W.2
Liu, Y.3
Goldbach-Mansky, R.4
-
38
-
-
84903480849
-
XIAP restricts TNF- and RIP3-dependent cell death and inflammasome activation
-
Yabal M, Muller N, Adler H et al (2014) XIAP restricts TNF- and RIP3-dependent cell death and inflammasome activation. Cell Reports 7:1796–1808
-
(2014)
Cell Reports
, vol.7
, pp. 1796-1808
-
-
Yabal, M.1
Muller, N.2
Adler, H.3
-
39
-
-
84860725325
-
Rare and common variants in CARD14, encoding an epidermal regulator of NFkappaB
-
Jordan CT, Cao L, Roberson ED et al (2012) Rare and common variants in CARD14, encoding an epidermal regulator of NFkappaB, in psoriasis. Am J Hum Genet 90:796–808
-
(2012)
Psoriasis. Am J Hum Genet
, vol.90
, pp. 796-808
-
-
Jordan, C.T.1
Cao, L.2
Roberson, E.D.3
-
41
-
-
84863980712
-
Familial pityriasis rubra pilaris is caused by mutations in CARD 14
-
Fuchs-Telem D, Sarig O, van Steensel MA et al (2012) Familial pityriasis rubra pilaris is caused by mutations in CARD 14. Am J Hum Genet 91:163–170
-
(2012)
Am J Hum Genet
, vol.91
, pp. 163-170
-
-
Fuchs-Telem, D.1
Sarig, O.2
Van Steensel, M.A.3
-
42
-
-
85027947837
-
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD 14
-
Eytan O, Sarig O, Sprecher E, van Steensel MA (2014) Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD 14. British J Dermatol 171:420–422
-
(2014)
British J Dermatol
, vol.171
, pp. 420-422
-
-
Eytan, O.1
Sarig, O.2
Sprecher, E.3
Van Steensel, M.A.4
-
43
-
-
84895461649
-
Early-onset stroke and vasculopathy associated with mutations in ADA 2
-
Zhou Q, Yang D, Ombrello AK et al (2014) Early-onset stroke and vasculopathy associated with mutations in ADA 2. N Engl J Med 370:911–920
-
(2014)
N Engl J Med
, vol.370
, pp. 911-920
-
-
Zhou, Q.1
Yang, D.2
Ombrello, A.K.3
-
44
-
-
84895465707
-
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
-
Navon Elkan P, Pierce SB, Segel R et al (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 370:921–931
-
(2014)
N Engl J Med
, vol.370
, pp. 921-931
-
-
Navon Elkan, P.1
Pierce, S.B.2
Segel, R.3
-
45
-
-
84908584244
-
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
-
Chakraborty PK, Schmitz-Abe K, Kennedy EK et al (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124:2867–2871
-
(2014)
Blood
, vol.124
, pp. 2867-2871
-
-
Chakraborty, P.K.1
Schmitz-Abe, K.2
Kennedy, E.K.3
-
46
-
-
84883664997
-
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
-
Wiseman DH, May A, Jolles S et al (2013) A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood 122:112–123
-
(2013)
Blood
, vol.122
, pp. 112-123
-
-
Wiseman, D.H.1
May, A.2
Jolles, S.3
-
47
-
-
84929724879
-
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT 1
-
Sasarman F, Thiffault I, Weraarpachai W, et al. (2015) The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT 1. Human Mol genet 24:2841–2847
-
(2015)
Human Mol Genet
, vol.24
, pp. 2841-2847
-
-
Sasarman, F.1
Thiffault, I.2
Weraarpachai, W.3
-
48
-
-
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 J Med 366:330–338
-
(2012)
N Engl J Med
, vol.366
, pp. 330-338
-
-
Ombrello, M.J.1
Remmers, E.F.2
Sun, G.3
-
49
-
-
84922762977
-
Connecting two pathways through Ca signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation
-
Chae JJ, Park YH, Park C, et al. (2014) Connecting two pathways through Ca signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation. Arthritis & Rheumatol 67:563–567
-
(2014)
Arthritis & Rheumatol
, vol.67
, pp. 563-567
-
-
Chae, J.J.1
Park, Y.H.2
Park, C.3
-
50
-
-
84894063757
-
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR 1
-
Livingston JH, Lin JP, Dale RC et al (2014) A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR 1. J Med Genet 51:76–82
-
(2014)
J Med Genet
, vol.51
, pp. 76-82
-
-
Livingston, J.H.1
Lin, J.P.2
Dale, R.C.3
|