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Volumn 94, Issue 10, 2016, Pages 1111-1127

Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus

Author keywords

Autoimmune; Autoinflammatory; Candle; Interferonopathies; SAVI; Type I IFN

Indexed keywords

AUTOANTIBODY; COMPLEMENT COMPONENT C1; DEOXYRIBONUCLEASE; IMMUNOSUPPRESSIVE AGENT; INTERFERON; INTERLEUKIN 1;

EID: 84988689987     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-016-1465-5     Document Type: Review
Times cited : (102)

References (122)
  • 1
    • 77950363011 scopus 로고    scopus 로고
    • Autoinflammatory disease reloaded: a clinical perspective
    • COI: 1:CAS:528:DC%2BC3cXlsVSgurk%3D, PID: 20303869
    • Kastner DL, Aksentijevich I, Goldbach-Mansky R (2010) Autoinflammatory disease reloaded: a clinical perspective. Cell 140:784–790
    • (2010) Cell , vol.140 , pp. 784-790
    • Kastner, D.L.1    Aksentijevich, I.2    Goldbach-Mansky, R.3
  • 2
    • 84927628632 scopus 로고    scopus 로고
    • Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling
    • PID: 25706096
    • 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
  • 3
    • 84863232739 scopus 로고    scopus 로고
    • Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
    • COI: 1:CAS:528:DC%2BC38XivVGju7o%3D, PID: 21953331
    • Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera 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 Rheumatism 64:895–907
    • (2012) Arthritis Rheumatism , vol.64 , pp. 895-907
    • Liu, Y.1    Ramot, Y.2    Torrelo, A.3    Paller, A.S.4    Si, N.5    Babay, S.6    Kim, P.W.7    Sheikh, A.8    Lee, C.C.9    Chen, Y.10    Vera, A.11
  • 5
    • 84887607415 scopus 로고    scopus 로고
    • Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    • COI: 1:CAS:528:DC%2BC3sXhslWlsb3L, PID: 24183309
    • Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, et al. (2013) Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol 12:1159–1169
    • (2013) Lancet Neurol , vol.12 , pp. 1159-1169
    • Rice, G.I.1    Forte, G.M.2    Szynkiewicz, M.3    Chase, D.S.4    Aeby, A.5    Abdel-Hamid, M.S.6    Ackroyd, S.7    Allcock, R.8    Bailey, K.M.9    Balottin, U.10
  • 6
    • 0037451167 scopus 로고    scopus 로고
    • Interferon and granulopoiesis signatures in systemic lupus erythematosus blood
    • COI: 1:CAS:528:DC%2BD3sXitlOgs74%3D, PID: 12642603
    • Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, Pascual V (2003) Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med 197:711–723
    • (2003) J Exp Med , vol.197 , pp. 711-723
    • Bennett, L.1    Palucka, A.K.2    Arce, E.3    Cantrell, V.4    Borvak, J.5    Banchereau, J.6    Pascual, V.7
  • 8
    • 82555192885 scopus 로고    scopus 로고
    • Type I interferonopathies: a novel set of inborn errors of immunity
    • COI: 1:CAS:528:DC%2BC38Xhsl2jtbs%3D, PID: 22129056
    • Crow YJ (2011) Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci 1238:91–98
    • (2011) Ann N Y Acad Sci , vol.1238 , pp. 91-98
    • Crow, Y.J.1
  • 9
    • 84864580509 scopus 로고    scopus 로고
    • Complement in the immunopathogenesis of rheumatic disease
    • COI: 1:CAS:528:DC%2BC38XhtFCrsb%2FP, PID: 22664835
    • Sturfelt G, Truedsson L (2012) Complement in the immunopathogenesis of rheumatic disease. Nat Rev Rheumatol 8:458–468
    • (2012) Nat Rev Rheumatol , vol.8 , pp. 458-468
    • Sturfelt, G.1    Truedsson, L.2
  • 12
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • COI: 1:CAS:528:DC%2BC3cXhsFags7fO
    • Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, Martinez de Villarreal L, dos Santos HG, Garg A (2010) PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Gen 87:866–872
    • (2010) Am J Hum Gen , vol.87 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    DeMartino, G.N.3    Mizrachi, D.4    Hernandez, M.D.5    Sousa, A.B.6    Martinez de Villarreal, L.7    dos Santos, H.G.8    Garg, A.9
  • 13
    • 80052565561 scopus 로고    scopus 로고
    • Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
    • COI: 1:CAS:528:DC%2BC3MXhtFyktb7J, PID: 21852578
    • Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, 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    Kanazawa, N.4    Kaneko, T.5    Mizushima, T.6    Ichinose, K.7    Nakamura, H.8    Tsujino, A.9    Kawakami, A.10
  • 16
    • 84946924864 scopus 로고    scopus 로고
    • CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation
    • COI: 1:CAS:528:DC%2BC2MXhvVegurfJ, PID: 26567544
    • Cavalcante MP, Brunelli JB, Miranda CC, Novak GV, Malle L, Aikawa NE, Jesus AA, Silva CA (2016) CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation. Eur J Pediatr 175:735–740
    • (2016) Eur J Pediatr , vol.175 , pp. 735-740
    • Cavalcante, M.P.1    Brunelli, J.B.2    Miranda, C.C.3    Novak, G.V.4    Malle, L.5    Aikawa, N.E.6    Jesus, A.A.7    Silva, C.A.8
  • 19
    • 84885649937 scopus 로고    scopus 로고
    • A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations
    • PID: 23942189
    • Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, Kanazawa N (2013) A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. Dermatology 227:26–30
    • (2013) Dermatology , vol.227 , pp. 26-30
    • Kunimoto, K.1    Kimura, A.2    Uede, K.3    Okuda, M.4    Aoyagi, N.5    Furukawa, F.6    Kanazawa, N.7
  • 20
    • 80052836194 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report
    • PID: 20553399
    • Ramot Y, Czarnowicki T, Maly A, Navon-Elkan P, Zlotogorski A (2011) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol 28:538–541
    • (2011) Pediatr Dermatol , vol.28 , pp. 538-541
    • Ramot, Y.1    Czarnowicki, T.2    Maly, A.3    Navon-Elkan, P.4    Zlotogorski, A.5
  • 24
    • 84860225255 scopus 로고    scopus 로고
    • Intracellular protein degradation: from a vague idea through the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting
    • COI: 1:CAS:528:DC%2BC38XlvVOnu7Y%3D, PID: 22327508
    • Ciechanover A (2012) Intracellular protein degradation: from a vague idea through the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting. Neurodegener Dis 10:7–22
    • (2012) Neurodegener Dis , vol.10 , pp. 7-22
    • Ciechanover, A.1
  • 25
    • 84943351971 scopus 로고    scopus 로고
    • Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases
    • COI: 1:CAS:528:DC%2BC2MXoslCiu7c%3D, PID: 25963519
    • Brehm A, Kruger E (2015) Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases. Semin Immunopathol 37:323–333
    • (2015) Semin Immunopathol , vol.37 , pp. 323-333
    • Brehm, A.1    Kruger, E.2
  • 28
    • 84941702440 scopus 로고    scopus 로고
    • Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood Granulomatosis with Polyangiitis
    • PID: 25992765
    • Munoz J, Rodiere M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D (2015) Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood Granulomatosis with Polyangiitis. JAMA Dermatol 151:872–877
    • (2015) JAMA Dermatol , vol.151 , pp. 872-877
    • Munoz, J.1    Rodiere, M.2    Jeremiah, N.3    Rieux-Laucat, F.4    Oojageer, A.5    Rice, G.I.6    Rozenberg, F.7    Crow, Y.J.8    Bessis, D.9
  • 30
    • 84871218439 scopus 로고    scopus 로고
    • STING and the innate immune response to nucleic acids in the cytosol
    • COI: 1:CAS:528:DC%2BC38XhvVektrrJ, PID: 23238760
    • Burdette DL, Vance RE (2013) STING and the innate immune response to nucleic acids in the cytosol. Nat Immunol 14:19–26
    • (2013) Nat Immunol , vol.14 , pp. 19-26
    • Burdette, D.L.1    Vance, R.E.2
  • 31
    • 81355146737 scopus 로고    scopus 로고
    • Cytosolic DNA sensors regulating type I interferon induction
    • COI: 1:CAS:528:DC%2BC3MXhsV2rt7%2FE, PID: 21940216
    • Keating SE, Baran M, Bowie AG (2011) Cytosolic DNA sensors regulating type I interferon induction. Trends Immunol 32:574–581
    • (2011) Trends Immunol , vol.32 , pp. 574-581
    • Keating, S.E.1    Baran, M.2    Bowie, A.G.3
  • 34
    • 0031593632 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome: an update and results of interferon-alpha studies
    • COI: 1:STN:280:DyaK1M%2Fms1Omuw%3D%3D, PID: 9851434
    • Goutieres F, Aicardi J, Barth PG, Lebon P (1998) Aicardi-Goutieres syndrome: an update and results of interferon-alpha studies. Ann Neurol 44:900–907
    • (1998) Ann Neurol , vol.44 , pp. 900-907
    • Goutieres, F.1    Aicardi, J.2    Barth, P.G.3    Lebon, P.4
  • 35
    • 70349760307 scopus 로고    scopus 로고
    • Aicardi-Goutieres syndrome
    • COI: 1:CAS:528:DC%2BD1MXivFSiu78%3D, PID: 19129251
    • Orcesi S, La Piana R, Fazzi E (2009) Aicardi-Goutieres syndrome. Br Med Bull 89:183–201
    • (2009) Br Med Bull , vol.89 , pp. 183-201
    • Orcesi, S.1    La Piana, R.2    Fazzi, E.3
  • 36
    • 0033915684 scopus 로고    scopus 로고
    • Familial systemic lupus erythematosus and congenital infection-like syndrome
    • COI: 1:STN:280:DC%2BD3M%2Fotlaltg%3D%3D, PID: 10963105
    • Dale RC, Tang SP, Heckmatt JZ, Tatnall FM (2000) Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 31:155–158
    • (2000) Neuropediatrics , vol.31 , pp. 155-158
    • Dale, R.C.1    Tang, S.P.2    Heckmatt, J.Z.3    Tatnall, F.M.4
  • 38
    • 21044459011 scopus 로고    scopus 로고
    • Suppression of haematopoiesis during therapy of chronic hepatitis C with different interferon alpha mono and combination therapy regimens
    • COI: 1:CAS:528:DC%2BD2MXmsFKqtrk%3D, PID: 15951552
    • Schmid M, Kreil A, Jessner W, Homoncik M, Datz C, Gangl A, Ferenci P, Peck-Radosavljevic M (2005) Suppression of haematopoiesis during therapy of chronic hepatitis C with different interferon alpha mono and combination therapy regimens. Gut 54:1014–1020
    • (2005) Gut , vol.54 , pp. 1014-1020
    • Schmid, M.1    Kreil, A.2    Jessner, W.3    Homoncik, M.4    Datz, C.5    Gangl, A.6    Ferenci, P.7    Peck-Radosavljevic, M.8
  • 39
    • 80053207000 scopus 로고    scopus 로고
    • Subcutaneous recombinant interferon-beta-1a (Rebif(R)): a review of its use in the treatment of relapsing multiple sclerosis
    • COI: 1:CAS:528:DC%2BC3MXhsV2rsLnE, PID: 21942977
    • Sanford M, Lyseng-Williamson KA (2011) Subcutaneous recombinant interferon-beta-1a (Rebif(R)): a review of its use in the treatment of relapsing multiple sclerosis. Drugs 71:1865–1891
    • (2011) Drugs , vol.71 , pp. 1865-1891
    • Sanford, M.1    Lyseng-Williamson, K.A.2
  • 41
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus
    • COI: 1:STN:280:DyaK2svmsVaisw%3D%3D, PID: 9324032
    • Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725
    • (1997) Arthritis Rheum , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 42
    • 85027948004 scopus 로고    scopus 로고
    • Cutaneous lupus erythematosus: diagnosis and treatment
    • COI: 1:STN:280:DC%2BC2c7nt1KgtA%3D%3D, PID: 24238695
    • Okon LG, Werth VP (2013) Cutaneous lupus erythematosus: diagnosis and treatment. Best Pract Res Clin Rheumatol 27:391–404
    • (2013) Best Pract Res Clin Rheumatol , vol.27 , pp. 391-404
    • Okon, L.G.1    Werth, V.P.2
  • 43
    • 0018859458 scopus 로고
    • Immune complexes and other laboratory features of pleural effusions: a comparison of rheumatoid arthritis, systemic lupus erythematosus, and other diseases
    • COI: 1:STN:280:DyaL3c3hvVCrsA%3D%3D
    • Halla JT, Schrohenloher RE, Volanakis JE (1980) Immune complexes and other laboratory features of pleural effusions: a comparison of rheumatoid arthritis, systemic lupus erythematosus, and other diseases. Annals Int Med 92:748–752
    • (1980) Annals Int Med , vol.92 , pp. 748-752
    • Halla, J.T.1    Schrohenloher, R.E.2    Volanakis, J.E.3
  • 44
    • 84897549425 scopus 로고    scopus 로고
    • IL-1 blockade in autoinflammatory syndromes
    • COI: 1:CAS:528:DC%2BC2cXktFeltbk%3D, PID: 24422572
    • Jesus AA, Goldbach-Mansky R (2014) IL-1 blockade in autoinflammatory syndromes. Ann Rev Med 65:223–244
    • (2014) Ann Rev Med , vol.65 , pp. 223-244
    • Jesus, A.A.1    Goldbach-Mansky, R.2
  • 45
    • 84982170421 scopus 로고    scopus 로고
    • Innate immune evasion strategies of DNA and RNA viruses
    • COI: 1:CAS:528:DC%2BC28XptVCktL8%3D, PID: 27288760
    • Beachboard DC, Horner SM (2016) Innate immune evasion strategies of DNA and RNA viruses. Curr Opin Microbiol 32:113–119
    • (2016) Curr Opin Microbiol , vol.32 , pp. 113-119
    • Beachboard, D.C.1    Horner, S.M.2
  • 47
    • 33746522835 scopus 로고    scopus 로고
    • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
    • COI: 1:CAS:528:DC%2BD28XnsVCgsrw%3D, PID: 16845400
    • Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, et al. (2006b) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 38:910–916
    • (2006) Nat Genet , vol.38 , pp. 910-916
    • Crow, Y.J.1    Leitch, A.2    Hayward, B.E.3    Garner, A.4    Parmar, R.5    Griffith, E.6    Ali, M.7    Semple, C.8    Aicardi, J.9    Babul-Hirji, R.10
  • 52
    • 33745501366 scopus 로고    scopus 로고
    • The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death
    • COI: 1:CAS:528:DC%2BD28XnsVyjs7s%3D, PID: 16818237
    • Chowdhury D, Beresford PJ, Zhu P, Zhang D, Sung JS, Demple B, Perrino FW, Lieberman J (2006) The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell 23:133–142
    • (2006) Mol Cell , vol.23 , pp. 133-142
    • Chowdhury, D.1    Beresford, P.J.2    Zhu, P.3    Zhang, D.4    Sung, J.S.5    Demple, B.6    Perrino, F.W.7    Lieberman, J.8
  • 53
    • 3242884449 scopus 로고    scopus 로고
    • The Chk2 protein kinase
    • COI: 1:CAS:528:DC%2BD2cXmtVeqt7s%3D
    • Ahn J, Urist M, Prives C (2004) The Chk2 protein kinase. DNA Repair (Amst) 3:1039–1047
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1039-1047
    • Ahn, J.1    Urist, M.2    Prives, C.3
  • 54
    • 36248988008 scopus 로고    scopus 로고
    • Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease
    • COI: 1:CAS:528:DC%2BD2sXhsVCntbbL, PID: 18045533
    • Yang YG, Lindahl T, Barnes DE (2007) Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131:873–886
    • (2007) Cell , vol.131 , pp. 873-886
    • Yang, Y.G.1    Lindahl, T.2    Barnes, D.E.3
  • 55
    • 49549100511 scopus 로고    scopus 로고
    • Trex1 prevents cell-intrinsic initiation of autoimmunity
    • COI: 1:CAS:528:DC%2BD1cXhtVGqtrnK, PID: 18724932
    • Stetson DB, Ko JS, Heidmann T, Medzhitov R (2008) Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134:587–598
    • (2008) Cell , vol.134 , pp. 587-598
    • Stetson, D.B.1    Ko, J.S.2    Heidmann, T.3    Medzhitov, R.4
  • 56
    • 84856301080 scopus 로고    scopus 로고
    • Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease
    • Gall A, Treuting P, Elkon KB, Loo YM, Gale M Jr, Barber GN, Stetson DB (2012) Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 36:120–131
    • (2012) Immunity , vol.36 , pp. 120-131
    • Gall, A.1    Treuting, P.2    Elkon, K.B.3    Loo, Y.M.4    Gale, M.5    Barber, G.N.6    Stetson, D.B.7
  • 57
    • 84255177502 scopus 로고    scopus 로고
    • RNase H and multiple RNA biogenesis factors cooperate to prevent RNA:DNA hybrids from generating genome instability
    • COI: 1:CAS:528:DC%2BC3MXhs1OqsL%2FK, PID: 22195970
    • Wahba L, Amon JD, Koshland D, Vuica-Ross M (2011) RNase H and multiple RNA biogenesis factors cooperate to prevent RNA:DNA hybrids from generating genome instability. Mol Cell 44:978–988
    • (2011) Mol Cell , vol.44 , pp. 978-988
    • Wahba, L.1    Amon, J.D.2    Koshland, D.3    Vuica-Ross, M.4
  • 62
    • 84961214693 scopus 로고    scopus 로고
    • RNase H2 catalytic core Aicardi-Goutieres syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice
    • COI: 1:CAS:528:DC%2BC28Xpt1yisr0%3D, PID: 26880576
    • Pokatayev V, Hasin N, Chon H, Cerritelli SM, Sakhuja K, Ward JM, Morris HD, Yan N, Crouch RJ (2016) RNase H2 catalytic core Aicardi-Goutieres syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice. J Exp Med 213:329–336
    • (2016) J Exp Med , vol.213 , pp. 329-336
    • Pokatayev, V.1    Hasin, N.2    Chon, H.3    Cerritelli, S.M.4    Sakhuja, K.5    Ward, J.M.6    Morris, H.D.7    Yan, N.8    Crouch, R.J.9
  • 63
    • 84886027402 scopus 로고    scopus 로고
    • Host restriction factor SAMHD1 limits human T cell leukemia virus type 1 infection of monocytes via STING-mediated apoptosis
    • COI: 1:CAS:528:DC%2BC3sXhs1KjurzK, PID: 24139400
    • Sze A, Belgnaoui SM, Olagnier D, Lin R, Hiscott J, van Grevenynghe J (2013) Host restriction factor SAMHD1 limits human T cell leukemia virus type 1 infection of monocytes via STING-mediated apoptosis. Cell Host Microbe 14:422–434
    • (2013) Cell Host Microbe , vol.14 , pp. 422-434
    • Sze, A.1    Belgnaoui, S.M.2    Olagnier, D.3    Lin, R.4    Hiscott, J.5    van Grevenynghe, J.6
  • 66
    • 0032211097 scopus 로고    scopus 로고
    • Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration
    • COI: 1:CAS:528:DyaK1cXntVWnt7Y%3D, PID: 9794439
    • Akwa Y, Hassett DE, Eloranta ML, Sandberg K, Masliah E, Powell H, Whitton JL, Bloom FE, Campbell IL (1998) Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol 161:5016–5026
    • (1998) J Immunol , vol.161 , pp. 5016-5026
    • Akwa, Y.1    Hassett, D.E.2    Eloranta, M.L.3    Sandberg, K.4    Masliah, E.5    Powell, H.6    Whitton, J.L.7    Bloom, F.E.8    Campbell, I.L.9
  • 69
    • 78650658122 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
    • PID: 21204240
    • Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A 155A:235–237
    • (2011) Am J Med Genet A , vol.155A , pp. 235-237
    • Ravenscroft, J.C.1    Suri, M.2    Rice, G.I.3    Szynkiewicz, M.4    Crow, Y.J.5
  • 71
    • 84928252776 scopus 로고    scopus 로고
    • Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1)
    • Gunther C, Berndt N, Wolf C, Lee-Kirsch MA (2015) Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1). JAMA Dermatol 151: 426-431. doi:10.1001/jamadermatol.2014.3438
    • (2015) JAMA Dermatol , vol.151 , pp. 426-431
    • Gunther, C.1    Berndt, N.2    Wolf, C.3    Lee-Kirsch, M.A.4
  • 72
    • 84925501444 scopus 로고    scopus 로고
    • Human disease phenotypes associated with mutations in TREX1
    • COI: 1:CAS:528:DC%2BC2MXjs1yhu7w%3D, PID: 25731743
    • Rice GI, Rodero MP, Crow YJ (2015) Human disease phenotypes associated with mutations in TREX1. J Clin Immunol 35:235–243
    • (2015) J Clin Immunol , vol.35 , pp. 235-243
    • Rice, G.I.1    Rodero, M.P.2    Crow, Y.J.3
  • 74
    • 84870504353 scopus 로고    scopus 로고
    • Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1
    • COI: 1:CAS:528:DC%2BC38XovValu78%3D, PID: 22718116
    • Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, Akiyama M (2012) Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1. J Invest Dermatol 132:2855–2857
    • (2012) J Invest Dermatol , vol.132 , pp. 2855-2857
    • Sugiura, K.1    Takeichi, T.2    Kono, M.3    Ito, Y.4    Ogawa, Y.5    Muro, Y.6    Akiyama, M.7
  • 79
    • 84983094431 scopus 로고    scopus 로고
    • Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutieres and singleton-Merten syndromes
    • COI: 1:CAS:528:DC%2BC28XjtVKlsQ%3D%3D, PID: 26284909
    • Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, et al. (2015) Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutieres and singleton-Merten syndromes. Br J Dermatol 173:1505–1513
    • (2015) Br J Dermatol , vol.173 , pp. 1505-1513
    • Bursztejn, A.C.1    Briggs, T.A.2    del Toro Duany, Y.3    Anderson, B.H.4    O'Sullivan, J.5    Williams, S.G.6    Bodemer, C.7    Fraitag, S.8    Gebhard, F.9    Leheup, B.10
  • 80
    • 84962624471 scopus 로고    scopus 로고
    • Early components of the complement classical activation pathway in human systemic autoimmune diseases
    • PID: 26913032
    • Lintner KE, Yang Y, Spencer CH, Hauptmann G, Hebert LA, Atkinson JP (2016) Early components of the complement classical activation pathway in human systemic autoimmune diseases. Front Immunol 7:36
    • (2016) Front Immunol , vol.7 , pp. 36
    • Lintner, K.E.1    Yang, Y.2    Spencer, C.H.3    Hauptmann, G.4    Hebert, L.A.5    Atkinson, J.P.6
  • 81
    • 0021884413 scopus 로고
    • Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis
    • COI: 1:STN:280:DyaL2M3ms1Oltw%3D%3D, PID: 2862466
    • Vergani D, Wells L, Larcher VF, Nasaruddin BA, Davies ET, Mieli-Vergani G, Mowat AP (1985) Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis. Lancet 2:294–298
    • (1985) Lancet , vol.2 , pp. 294-298
    • Vergani, D.1    Wells, L.2    Larcher, V.F.3    Nasaruddin, B.A.4    Davies, E.T.5    Mieli-Vergani, G.6    Mowat, A.P.7
  • 83
    • 0019454051 scopus 로고
    • Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome
    • COI: 1:STN:280:DyaL38%2FlvVakug%3D%3D, PID: 7029321
    • Mampaso F, Ecija J, Fogue L, Moneo I, Gallego N, Leyva-Cobian F (1981) Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. Nephron 28:179–185
    • (1981) Nephron , vol.28 , pp. 179-185
    • Mampaso, F.1    Ecija, J.2    Fogue, L.3    Moneo, I.4    Gallego, N.5    Leyva-Cobian, F.6
  • 85
    • 78049496573 scopus 로고    scopus 로고
    • C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes
    • Santer DM, Hall BE, George TC, Tangsombatvisit S, Liu CL, Arkwright PD, Elkon KB (2010) C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. Journal of immunology 185: 4738-4749. doi:10.4049/jimmunol.1001731
    • (2010) Journal of immunology , vol.185 , pp. 4738-4749
    • Santer, D.M.1    Hall, B.E.2    George, T.C.3    Tangsombatvisit, S.4    Liu, C.L.5    Arkwright, P.D.6    Elkon, K.B.7
  • 86
    • 0029984710 scopus 로고    scopus 로고
    • Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families
    • COI: 1:CAS:528:DyaK28XivVegtb0%3D, PID: 8630118
    • Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ (1996) Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. Arthritis Rheum 39:663–670
    • (1996) Arthritis Rheum , vol.39 , pp. 663-670
    • Slingsby, J.H.1    Norsworthy, P.2    Pearce, G.3    Vaishnaw, A.K.4    Issler, H.5    Morley, B.J.6    Walport, M.J.7
  • 87
    • 34848852711 scopus 로고    scopus 로고
    • Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency
    • COI: 1:CAS:528:DC%2BD2sXhsVWgsLzF, PID: 17890276
    • Vassallo G, Newton RW, Chieng SE, Haeney MR, Shabani A, Arkwright PD (2007) Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. Rheumatology 46:1612–1614
    • (2007) Rheumatology , vol.46 , pp. 1612-1614
    • Vassallo, G.1    Newton, R.W.2    Chieng, S.E.3    Haeney, M.R.4    Shabani, A.5    Arkwright, P.D.6
  • 88
    • 84990210555 scopus 로고    scopus 로고
    • American College of Rheumatology
    • American College of Rheumatology (2016) Image Library
    • (2016) Image Library
  • 89
    • 84990211604 scopus 로고    scopus 로고
    • Malar rash [digital image] (2012) Retrieved from
    • Malar rash [digital image] (2012) Retrieved from http://www.mollysfund.org/2012/11/the-lupus-butterfly-rash-or-malar-rash-information-you-need-to-know/
  • 90
    • 84958292175 scopus 로고    scopus 로고
    • Lymphocytic panniculitis: an algorithmic approach to lymphocytes in subcutaneous tissue
    • COI: 1:CAS:528:DC%2BC28XmvVymsb4%3D, PID: 26602413
    • Shiau CJ, Abi Daoud MS, Wong SM, Crawford RI (2015) Lymphocytic panniculitis: an algorithmic approach to lymphocytes in subcutaneous tissue. J Clin Pathol 68:954–962
    • (2015) J Clin Pathol , vol.68 , pp. 954-962
    • Shiau, C.J.1    Abi Daoud, M.S.2    Wong, S.M.3    Crawford, R.I.4
  • 91
    • 0034013114 scopus 로고    scopus 로고
    • Pleuropulmonary manifestations of systemic lupus erythematosus
    • COI: 1:STN:280:DC%2BD3c7gslaksQ%3D%3D, PID: 10639536
    • Keane MP, Lynch JP III (2000) Pleuropulmonary manifestations of systemic lupus erythematosus. Thorax 55:159–166
    • (2000) Thorax , vol.55 , pp. 159-166
    • Keane, M.P.1    Lynch, J.P.2
  • 92
    • 84969808335 scopus 로고    scopus 로고
    • Autoantigens as partners in initiation and propagation of autoimmune rheumatic diseases
    • PID: 26907212
    • Rosen A, Casciola-Rosen L (2016) Autoantigens as partners in initiation and propagation of autoimmune rheumatic diseases. Annu Rev Immunol 34:395–420
    • (2016) Annu Rev Immunol , vol.34 , pp. 395-420
    • Rosen, A.1    Casciola-Rosen, L.2
  • 93
    • 84962577206 scopus 로고    scopus 로고
    • Clearance deficiency and cell death pathways: a model for the pathogenesis of SLE
    • PID: 26904025
    • Mahajan A, Herrmann M, Munoz LE (2016) Clearance deficiency and cell death pathways: a model for the pathogenesis of SLE. Front Immunol 7:35
    • (2016) Front Immunol , vol.7 , pp. 35
    • Mahajan, A.1    Herrmann, M.2    Munoz, L.E.3
  • 94
    • 0032462810 scopus 로고    scopus 로고
    • C1q knock-out mice for the study of complement deficiency in autoimmune disease
    • COI: 1:CAS:528:DyaK1MXit1KrtLc%3D, PID: 10072632
    • Botto M (1998) C1q knock-out mice for the study of complement deficiency in autoimmune disease. Exp Clin Immunogenet 15:231–234
    • (1998) Exp Clin Immunogenet , vol.15 , pp. 231-234
    • Botto, M.1
  • 95
    • 0034114882 scopus 로고    scopus 로고
    • Features of systemic lupus erythematosus in Dnase1-deficient mice
    • COI: 1:CAS:528:DC%2BD3cXjvFOgt7c%3D, PID: 10835632
    • Napirei M, Karsunky H, Zevnik B, Stephan H, Mannherz HG, Moroy T (2000) Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet 25:177–181
    • (2000) Nat Genet , vol.25 , pp. 177-181
    • Napirei, M.1    Karsunky, H.2    Zevnik, B.3    Stephan, H.4    Mannherz, H.G.5    Moroy, T.6
  • 96
    • 78651077521 scopus 로고    scopus 로고
    • Nuclease deficiencies promote end-stage lupus nephritis but not nephritogenic autoimmunity in (NZB x NZW) F1 mice
    • COI: 1:CAS:528:DC%2BC3MXjsVGntQ%3D%3D, PID: 20548325
    • Fismen S, Mortensen ES, Rekvig OP (2011) Nuclease deficiencies promote end-stage lupus nephritis but not nephritogenic autoimmunity in (NZB x NZW) F1 mice. Immunol Cell Biol 89:90–99
    • (2011) Immunol Cell Biol , vol.89 , pp. 90-99
    • Fismen, S.1    Mortensen, E.S.2    Rekvig, O.P.3
  • 99
    • 0028288510 scopus 로고
    • Autoantigens targeted in systemic lupus erythematosus are clustered in two populations of surface structures on apoptotic keratinocytes
    • COI: 1:CAS:528:DyaK2cXhs1Wms7Y%3D, PID: 7511686
    • Casciola-Rosen LA, Anhalt G, Rosen A (1994) Autoantigens targeted in systemic lupus erythematosus are clustered in two populations of surface structures on apoptotic keratinocytes. J Exp Med 179:1317–1330
    • (1994) J Exp Med , vol.179 , pp. 1317-1330
    • Casciola-Rosen, L.A.1    Anhalt, G.2    Rosen, A.3
  • 101
    • 84906069844 scopus 로고    scopus 로고
    • The role of dead cell clearance in the etiology and pathogenesis of systemic lupus erythematosus: dendritic cells as potential targets
    • COI: 1:CAS:528:DC%2BC2cXhtleqtrvL, PID: 25081199
    • Biermann MH, Veissi S, Maueroder C, Chaurio R, Berens C, Herrmann M, Munoz LE (2014) The role of dead cell clearance in the etiology and pathogenesis of systemic lupus erythematosus: dendritic cells as potential targets. Expert Rev Clin Immunol 10:1151–1164
    • (2014) Expert Rev Clin Immunol , vol.10 , pp. 1151-1164
    • Biermann, M.H.1    Veissi, S.2    Maueroder, C.3    Chaurio, R.4    Berens, C.5    Herrmann, M.6    Munoz, L.E.7
  • 102
    • 68049091014 scopus 로고    scopus 로고
    • Mouse dendritic cells matured by ingestion of apoptotic blebs induce T cells to produce interleukin-17
    • COI: 1:CAS:528:DC%2BD1MXhtV2hsLjM, PID: 19644874
    • Fransen JH, Hilbrands LB, Ruben J, Stoffels M, Adema GJ, van der Vlag J, Berden JH (2009a) Mouse dendritic cells matured by ingestion of apoptotic blebs induce T cells to produce interleukin-17. Arthritis Rheum 60:2304–2313
    • (2009) Arthritis Rheum , vol.60 , pp. 2304-2313
    • Fransen, J.H.1    Hilbrands, L.B.2    Ruben, J.3    Stoffels, M.4    Adema, G.J.5    van der Vlag, J.6    Berden, J.H.7
  • 103
    • 0037062934 scopus 로고    scopus 로고
    • Release of chromatin protein HMGB1 by necrotic cells triggers inflammation
    • COI: 1:CAS:528:DC%2BD38XltFGlsro%3D, PID: 12110890
    • Scaffidi P, Misteli T, Bianchi ME (2002) Release of chromatin protein HMGB1 by necrotic cells triggers inflammation. Nature 418:191–195
    • (2002) Nature , vol.418 , pp. 191-195
    • Scaffidi, P.1    Misteli, T.2    Bianchi, M.E.3
  • 104
    • 70749148355 scopus 로고    scopus 로고
    • Both early and late apoptotic blebs are taken up by DC and induce IL-6 production
    • COI: 1:CAS:528:DC%2BD1MXhtV2htbrP, PID: 19811290
    • Fransen JH, Hilbrands LB, Jacobs CW, Adema GJ, Berden JH, Van der Vlag J (2009b) Both early and late apoptotic blebs are taken up by DC and induce IL-6 production. Autoimmunity 42:325–327
    • (2009) Autoimmunity , vol.42 , pp. 325-327
    • Fransen, J.H.1    Hilbrands, L.B.2    Jacobs, C.W.3    Adema, G.J.4    Berden, J.H.5    Van der Vlag, J.6
  • 105
    • 66449089455 scopus 로고    scopus 로고
    • Remnants of secondarily necrotic cells fuel inflammation in systemic lupus erythematosus
    • Munoz LE, Janko C, Grossmayer GE, Frey B, Voll RE, Kern P, et al. Remnants of secondarily necrotic cells fuel inflammation in systemic lupus erythematosus. Arthritis and rheumatism. 2009;60(6):1733–42
    • (2009) Arthritis and rheumatism , vol.60 , Issue.6 , pp. 1733-1742
    • Munoz, L.E.1    Janko, C.2    Grossmayer, G.E.3    Frey, B.4    Voll, R.E.5    Kern, P.6
  • 108
    • 26244466392 scopus 로고    scopus 로고
    • Mechanisms of immune-deposit formation and the mediation of immune renal injury
    • COI: 1:CAS:528:DC%2BD2MXhtFGlt7%2FK, PID: 16189625
    • Nangaku M, Couser WG (2005) Mechanisms of immune-deposit formation and the mediation of immune renal injury. Clin Exp Nephrol 9:183–191
    • (2005) Clin Exp Nephrol , vol.9 , pp. 183-191
    • Nangaku, M.1    Couser, W.G.2
  • 110
    • 77955883153 scopus 로고    scopus 로고
    • Complement: a key system for immune surveillance and homeostasis
    • COI: 1:CAS:528:DC%2BC3cXhtVCmtbfO, PID: 20720586
    • Ricklin D, Hajishengallis G, Yang K, Lambris JD (2010) Complement: a key system for immune surveillance and homeostasis. Nat Immunol 11:785–797
    • (2010) Nat Immunol , vol.11 , pp. 785-797
    • Ricklin, D.1    Hajishengallis, G.2    Yang, K.3    Lambris, J.D.4
  • 111
    • 84883403574 scopus 로고    scopus 로고
    • Macrophage clearance of neutrophil extracellular traps is a silent process
    • COI: 1:CAS:528:DC%2BC3sXhtlSgtLbM, PID: 23904163
    • Farrera C, Fadeel B (2013) Macrophage clearance of neutrophil extracellular traps is a silent process. J Immunol 191:2647–2656
    • (2013) J Immunol , vol.191 , pp. 2647-2656
    • Farrera, C.1    Fadeel, B.2
  • 113
    • 84861665596 scopus 로고    scopus 로고
    • Role of type I interferons in the activation of autoreactive B cells
    • COI: 1:CAS:528:DC%2BC38XnvFCit7o%3D, PID: 22430248
    • Kiefer K, Oropallo MA, Cancro MP, Marshak-Rothstein A (2012) Role of type I interferons in the activation of autoreactive B cells. Immunol Cell Biol 90:498–504
    • (2012) Immunol Cell Biol , vol.90 , pp. 498-504
    • Kiefer, K.1    Oropallo, M.A.2    Cancro, M.P.3    Marshak-Rothstein, A.4
  • 114
    • 6344282903 scopus 로고    scopus 로고
    • Induction of genes mediating interferon-dependent extracellular trap formation during neutrophil differentiation
    • COI: 1:CAS:528:DC%2BD2cXot1yns74%3D, PID: 15302890
    • Martinelli S, Urosevic M, Daryadel A, Oberholzer PA, Baumann C, Fey MF, Dummer R, Simon HU, Yousefi S (2004) Induction of genes mediating interferon-dependent extracellular trap formation during neutrophil differentiation. J Biol Chem 279:44123–44132
    • (2004) J Biol Chem , vol.279 , pp. 44123-44132
    • Martinelli, S.1    Urosevic, M.2    Daryadel, A.3    Oberholzer, P.A.4    Baumann, C.5    Fey, M.F.6    Dummer, R.7    Simon, H.U.8    Yousefi, S.9
  • 115
    • 84874228952 scopus 로고    scopus 로고
    • Proteins derived from neutrophil extracellular traps may serve as self-antigens and mediate organ damage in autoimmune diseases
    • PID: 23248629
    • Knight JS, Carmona-Rivera C, Kaplan MJ (2012) Proteins derived from neutrophil extracellular traps may serve as self-antigens and mediate organ damage in autoimmune diseases. Front Immunol 3:380
    • (2012) Front Immunol , vol.3 , pp. 380
    • Knight, J.S.1    Carmona-Rivera, C.2    Kaplan, M.J.3
  • 116
    • 77957745555 scopus 로고    scopus 로고
    • Type I interferon: friend or foe?
    • COI: 1:CAS:528:DC%2BC3cXht1Cms7zN, PID: 20837696
    • Trinchieri G (2010) Type I interferon: friend or foe? J Exp Med 207:2053–2063
    • (2010) J Exp Med , vol.207 , pp. 2053-2063
    • Trinchieri, G.1
  • 117
    • 79251551861 scopus 로고    scopus 로고
    • Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
    • COI: 1:CAS:528:DC%2BC3MXjtVOjsg%3D%3D, PID: 21217755
    • Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, 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    Urquhart, J.4    Gornall, H.5    Bader-Meunier, B.6    Baskar, K.7    Baskar, S.8    Baudouin, V.9    Beresford, M.W.10
  • 118
    • 79251564299 scopus 로고    scopus 로고
    • Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
    • COI: 1:CAS:528:DC%2BC3MXjtVOiug%3D%3D, PID: 21217752
    • Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo 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    Trojandt, S.4    Alanay, Y.5    De Laet, C.6    Hubner, C.A.7    Meinecke, P.8    Nishimura, G.9    Matsuo, M.10


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