-
1
-
-
77950345093
-
Inflammation 2010: new adventures of an old flame
-
Medzhitov R. Inflammation 2010: new adventures of an old flame. Cell 2010;140:771–776.
-
(2010)
Cell
, vol.140
, pp. 771-776
-
-
Medzhitov, R.1
-
3
-
-
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. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133–144.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
-
4
-
-
77955162922
-
Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis
-
Henderson C, Goldbach-Mansky R. Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis. Curr Opin Rheumatol 2010;22:567–578.
-
(2010)
Curr Opin Rheumatol
, vol.22
, pp. 567-578
-
-
Henderson, C.1
Goldbach-Mansky, R.2
-
5
-
-
84921548263
-
Proteasome-associated autoinflammatory syndromes: advances in pathogenesis, clinical presentations, diagnosis, and management
-
McDermott A, Jacks J, Kessler M et al. Proteasome-associated autoinflammatory syndromes: advances in pathogenesis, clinical presentations, diagnosis, and management. Int J Dermatol 2015;54:121–129.
-
(2015)
Int J Dermatol
, vol.54
, pp. 121-129
-
-
McDermott, A.1
Jacks, J.2
Kessler, M.3
-
6
-
-
84922248914
-
Genetics of proteasome diseases
-
Gomes AV. Genetics of proteasome diseases. Scientifica (Cairo) 2013;2013:637629.
-
(2013)
Scientifica (Cairo)
, vol.2013
, pp. 637629
-
-
Gomes, A.V.1
-
7
-
-
84857056178
-
Immunoproteasomes at the interface of innate and adaptive immune responses: two faces of one enzyme
-
Krüger E, Kloetzel PM. Immunoproteasomes at the interface of innate and adaptive immune responses: two faces of one enzyme. Curr Opin Immunol 2012;24:77–83.
-
(2012)
Curr Opin Immunol
, vol.24
, pp. 77-83
-
-
Krüger, E.1
Kloetzel, P.M.2
-
8
-
-
84863232739
-
Mutations in proteasome subunit β 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. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012;64:895–907.
-
(2012)
Arthritis Rheum
, vol.64
, pp. 895-907
-
-
Liu, Y.1
Ramot, Y.2
Torrelo, A.3
-
9
-
-
84946780874
-
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
-
Brehm A, Liu Y, Sheikh A et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest 2015;125:4196–4211.
-
(2015)
J Clin Invest
, vol.125
, pp. 4196-4211
-
-
Brehm, A.1
Liu, Y.2
Sheikh, A.3
-
10
-
-
76249121423
-
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
-
Torrelo A, Patel S, Colmenero I et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010;62:489–495.
-
(2010)
J Am Acad Dermatol
, vol.62
, pp. 489-495
-
-
Torrelo, A.1
Patel, S.2
Colmenero, I.3
-
11
-
-
84942565152
-
Histologic and immunohistochemical features of the skin lesions in CANDLE syndrome
-
Torrelo A, Colmenero I, Requena L et al. Histologic and immunohistochemical features of the skin lesions in CANDLE syndrome. Am J Dermatopathol 2015;37:517–522.
-
(2015)
Am J Dermatopathol
, vol.37
, pp. 517-522
-
-
Torrelo, A.1
Colmenero, I.2
Requena, L.3
-
12
-
-
84862677492
-
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy
-
Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int 2012;61:197–206.
-
(2012)
Allergol Int
, vol.61
, pp. 197-206
-
-
Kanazawa, N.1
-
13
-
-
79955509835
-
Direct effects of type I interferons on cells of the immune system
-
Hervas-Stubbs S, Perez-Gracia JL, Rouzaut A et al. Direct effects of type I interferons on cells of the immune system. Clin Cancer Res 2011;17:2619–2627.
-
(2011)
Clin Cancer Res
, vol.17
, pp. 2619-2627
-
-
Hervas-Stubbs, S.1
Perez-Gracia, J.L.2
Rouzaut, A.3
-
14
-
-
75149189005
-
Type I interferons: crucial participants in disease amplification in autoimmunity
-
Hall JC, Rosen A. Type I interferons: crucial participants in disease amplification in autoimmunity. Nat Rev Rheumatol 2010;6:40–49.
-
(2010)
Nat Rev Rheumatol
, vol.6
, pp. 40-49
-
-
Hall, J.C.1
Rosen, A.2
-
16
-
-
79952446319
-
Putting the brakes on the anti-viral response: negative regulators of type I interferon (IFN) production
-
Richards KH, Macdonald A. Putting the brakes on the anti-viral response: negative regulators of type I interferon (IFN) production. Microbes Infect 2011;13:291–302.
-
(2011)
Microbes Infect
, vol.13
, pp. 291-302
-
-
Richards, K.H.1
Macdonald, A.2
-
17
-
-
82555192885
-
Type I interferonopathies: a novel set of inborn errors of immunity
-
Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci 2011;1238:91–98.
-
(2011)
Ann N Y Acad Sci
, vol.1238
, pp. 91-98
-
-
Crow, Y.J.1
-
18
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
Liu Y, Jesus AA, Marrero B et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med 2014;371:507–518.
-
(2014)
N Engl J Med
, vol.371
, pp. 507-518
-
-
Liu, Y.1
Jesus, A.A.2
Marrero, B.3
-
19
-
-
84873829004
-
Heterozygous TREX1 pAsp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus
-
Abe J, Izawa K, Nishikomori R et al. Heterozygous TREX1 pAsp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. Rheumatology 2013;52:406–408.
-
(2013)
Rheumatology
, vol.52
, pp. 406-408
-
-
Abe, J.1
Izawa, K.2
Nishikomori, R.3
-
20
-
-
0021336060
-
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
-
Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984;15:49–54.
-
(1984)
Ann Neurol
, vol.15
, pp. 49-54
-
-
Aicardi, J.1
Goutières, F.2
-
21
-
-
0032589399
-
Aicardi-Goutiè syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
-
Fauré S, Bordelais I, Marquette C et al. Aicardi-Goutiè syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? Clin Genet 1999;56:149–153.
-
(1999)
Clin Genet
, vol.56
, pp. 149-153
-
-
Fauré, S.1
Bordelais, I.2
Marquette, C.3
-
22
-
-
48549085675
-
Aicardi-Goutières syndrome (AGS)
-
Stephenson JB. Aicardi-Goutières syndrome (AGS). Eur J Paediatr Neurol 2008;12:355–358.
-
(2008)
Eur J Paediatr Neurol
, vol.12
, pp. 355-358
-
-
Stephenson, J.B.1
-
23
-
-
77950396519
-
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures
-
Dale RC, Gornall H, Singh-Grewal D et al. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A 2010;152A:938–942.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 938-942
-
-
Dale, R.C.1
Gornall, H.2
Singh-Grewal, D.3
-
24
-
-
77649145863
-
Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report
-
Juern A, Robbins A, Galbraith S et al. Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report. Pediatr Dermatol 2010;27:82–85.
-
(2010)
Pediatr Dermatol
, vol.27
, pp. 82-85
-
-
Juern, A.1
Robbins, A.2
Galbraith, S.3
-
25
-
-
68849132583
-
Blueberry muffin rash as the presenting sign of Aicardi-Goutières syndrome
-
Brisman S, Gonzalez M, Morel KD. Blueberry muffin rash as the presenting sign of Aicardi-Goutières syndrome. Pediatr Dermatol 2009;26:432–435.
-
(2009)
Pediatr Dermatol
, vol.26
, pp. 432-435
-
-
Brisman, S.1
Gonzalez, M.2
Morel, K.D.3
-
27
-
-
84863326630
-
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome
-
Tüngler V, Silver RM, Walkenhorst H et al. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. Br J Dermatol 2012;167:212–214.
-
(2012)
Br J Dermatol
, vol.167
, pp. 212-214
-
-
Tüngler, V.1
Silver, R.M.2
Walkenhorst, H.3
-
28
-
-
84884336624
-
Systemic involvement in TREX1-associated familial chilblain lupus
-
Günther C, Hillebrand M, Brunk J et al. Systemic involvement in TREX1-associated familial chilblain lupus. J Am Acad Dermatol 2013;69:e179–e181.
-
(2013)
J Am Acad Dermatol
, vol.69
, pp. e179-e181
-
-
Günther, C.1
Hillebrand, M.2
Brunk, J.3
-
29
-
-
0027942984
-
Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria
-
Su WP, Perniciaro C, Rogers RS et al. Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria. Cutis 1994;54:395–399.
-
(1994)
Cutis
, vol.54
, pp. 395-399
-
-
Su, W.P.1
Perniciaro, C.2
Rogers, R.S.3
-
30
-
-
84889593448
-
Chilblain lupus erythematosus
-
Patel S, Hardo F. Chilblain lupus erythematosus. BMJ Case Rep 2013;2013:pii: bcr2013201165.
-
(2013)
BMJ Case Rep
, vol.2013
-
-
Patel, S.1
Hardo, F.2
-
31
-
-
78049496573
-
C1q deficiency leads to the defective suppression of IFN-α in response to nucleoprotein containing immune complexes
-
Santer DM, Hall BE, George TC et al. C1q deficiency leads to the defective suppression of IFN-α in response to nucleoprotein containing immune complexes. J Immunol 2010;185:4738–4749.
-
(2010)
J Immunol
, vol.185
, pp. 4738-4749
-
-
Santer, D.M.1
Hall, B.E.2
George, T.C.3
-
32
-
-
68049123124
-
Complement in human diseases: lessons from complement deficiencies
-
Botto M, Kirschfink M, Macor P et al. Complement in human diseases: lessons from complement deficiencies. Mol Immunol 2009;46:2774–2783.
-
(2009)
Mol Immunol
, vol.46
, pp. 2774-2783
-
-
Botto, M.1
Kirschfink, M.2
Macor, P.3
-
33
-
-
80054736581
-
Functional complement C1q abnormality leads to impaired immune complexes and apoptotic cell clearance
-
Roumenina LT, Sène D, Radanova M et al. Functional complement C1q abnormality leads to impaired immune complexes and apoptotic cell clearance. J Immunol 2011;187:4369–4373.
-
(2011)
J Immunol
, vol.187
, pp. 4369-4373
-
-
Roumenina, L.T.1
Sène, D.2
Radanova, M.3
-
34
-
-
82555194114
-
Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations
-
Schejbel L, Skattum L, Hagelberg S et al. Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations. Genes Immun 2011;12:626–634.
-
(2011)
Genes Immun
, vol.12
, pp. 626-634
-
-
Schejbel, L.1
Skattum, L.2
Hagelberg, S.3
-
35
-
-
79952475512
-
SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience
-
Mehta P, Norsworthy PJ, Hall AE et al. SLE with C1q deficiency treated with fresh frozen plasma: a 10-year experience. Rheumatology 2010;49:823–824.
-
(2010)
Rheumatology
, vol.49
, pp. 823-824
-
-
Mehta, P.1
Norsworthy, P.J.2
Hall, A.E.3
-
36
-
-
84891748872
-
Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation
-
Arkwright PD, Riley P, Hughes SM et al. Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. J Allergy Clin Immunol 2014;133:265–267.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 265-267
-
-
Arkwright, P.D.1
Riley, P.2
Hughes, S.M.3
-
37
-
-
84961696302
-
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis
-
Starokadomskyy P, Gemelli T, Rios JJ et al. DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol 2016;17:495–504.
-
(2016)
Nat Immunol
, vol.17
, pp. 495-504
-
-
Starokadomskyy, P.1
Gemelli, T.2
Rios, J.J.3
-
39
-
-
84863719177
-
A novel dermato-pulmonary syndrome associated with MDA-5 antibodies: report of 2 cases and review of the literature
-
Chaisson NF, Paik J, Orbai AM. A novel dermato-pulmonary syndrome associated with MDA-5 antibodies: report of 2 cases and review of the literature. Medicine (Baltimore) 2012;91:220–228.
-
(2012)
Medicine (Baltimore)
, vol.91
, pp. 220-228
-
-
Chaisson, N.F.1
Paik, J.2
Orbai, A.M.3
-
40
-
-
0037451167
-
Interferon and granulopoiesis signatures in systemic lupus erythematosus blood
-
Bennett L, Palucka AK, Arce E et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med 2003;197:711–723.
-
(2003)
J Exp Med
, vol.197
, pp. 711-723
-
-
Bennett, L.1
Palucka, A.K.2
Arce, E.3
-
41
-
-
45049088360
-
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations
-
Molho-Pessach V, Agha Z, Aamar S et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008;59:79–85.
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 79-85
-
-
Molho-Pessach, V.1
Agha, Z.2
Aamar, S.3
-
42
-
-
53249090469
-
The H syndrome is caused by mutations in the nucleoside transporter hENT3
-
Molho-Pessach V, Lerer I, Abeliovich D et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008;83:529–534.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 529-534
-
-
Molho-Pessach, V.1
Lerer, I.2
Abeliovich, D.3
-
43
-
-
85047685868
-
The role of mitochondrial and plasma membrane nucleoside transporters in drug toxicity
-
Leung GP, Tse CM. The role of mitochondrial and plasma membrane nucleoside transporters in drug toxicity. Expert Opin Drug Metab Toxicol 2007;3:705–718.
-
(2007)
Expert Opin Drug Metab Toxicol
, vol.3
, pp. 705-718
-
-
Leung, G.P.1
Tse, C.M.2
-
44
-
-
84855485547
-
Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis
-
Hsu CL, Lin W, Seshasayee D et al. Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science 2012;335:89–92.
-
(2012)
Science
, vol.335
, pp. 89-92
-
-
Hsu, C.L.1
Lin, W.2
Seshasayee, D.3
-
46
-
-
33947686755
-
Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?
-
Prendiville J, Rogers M, Kan A. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol 2007;24:101–107.
-
(2007)
Pediatr Dermatol
, vol.24
, pp. 101-107
-
-
Prendiville, J.1
Rogers, M.2
Kan, A.3
-
47
-
-
84860352883
-
Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease
-
Colmenero I, Molho-Pessach V, Torrelo A et al. Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. Am J Dermatopathol 2012;34:315–320.
-
(2012)
Am J Dermatopathol
, vol.34
, pp. 315-320
-
-
Colmenero, I.1
Molho-Pessach, V.2
Torrelo, A.3
-
48
-
-
84895461649
-
Early-onset stroke and vasculopathy associated with mutations in ADA2
-
Zhou Q, Yang D, Ombrello AK et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911–920.
-
(2014)
N Engl J Med
, vol.370
, pp. 911-920
-
-
Zhou, Q.1
Yang, D.2
Ombrello, A.K.3
-
49
-
-
84895465707
-
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
-
Navon Elkan P, Pierce SB, Segel R et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921–931.
-
(2014)
N Engl J Med
, vol.370
, pp. 921-931
-
-
Navon Elkan, P.1
Pierce, S.B.2
Segel, R.3
-
50
-
-
84949599562
-
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
-
Zhou Q, Wang H, Schwartz DM et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 2016;48:67–73.
-
(2016)
Nat Genet
, vol.48
, pp. 67-73
-
-
Zhou, Q.1
Wang, H.2
Schwartz, D.M.3
|