{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:46:43Z","timestamp":1793245603745,"version":"4.5.0"},"reference-count":327,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T00:00:00Z","timestamp":1733097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Rheumatol"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1038\/s41584-024-01184-8","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T11:37:09Z","timestamp":1733139429000},"page":"22-45","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus"],"prefix":"10.1038","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7865-5769","authenticated-orcid":false,"given":"Raphaela","family":"Goldbach-Mansky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Alehashemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8966-8362","authenticated-orcid":false,"given":"Adriana A.","family":"de Jesus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,2]]},"reference":[{"key":"1184_CR1","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1098\/rspb.1957.0048","volume":"147","author":"A Isaacs","year":"1957","unstructured":"Isaacs, A. & Lindenmann, J. Virus interference. I. The interferon. Proc. R. Soc. Lond. B Biol. Sci. 147, 258\u2013267 (1957).","journal-title":"Proc. R. Soc. Lond. B Biol. Sci."},{"key":"1184_CR2","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/j.1749-6632.2011.06220.x","volume":"1238","author":"YJ Crow","year":"2011","unstructured":"Crow, Y. J. Type I interferonopathies: a novel set of inborn errors of immunity. Ann. N. Y. Acad. Sci. 1238, 91\u201398 (2011).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"1184_CR3","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1038\/ng1845","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow, Y. J. et al. Mutations in the gene encoding the 3\u2019-5\u2019 DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat. Genet 38, 917\u2013920 (2006).","journal-title":"Nat. Genet"},{"key":"1184_CR4","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1038\/ng1842","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow, Y. J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat. Genet. 38, 910\u2013916 (2006).","journal-title":"Nat. Genet."},{"key":"1184_CR5","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1056\/NEJMoa1312625","volume":"371","author":"Y Liu","year":"2014","unstructured":"Liu, Y. et al. Activated STING in a vascular and pulmonary syndrome. N. Engl. J. Med. 371, 507\u2013518 (2014).","journal-title":"N. Engl. J. Med."},{"key":"1184_CR6","doi-asserted-by":"publisher","first-page":"5516","DOI":"10.1172\/JCI79100","volume":"124","author":"N Jeremiah","year":"2014","unstructured":"Jeremiah, N. et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J. Clin. Invest. 124, 5516\u20135520 (2014).","journal-title":"J. Clin. Invest."},{"key":"1184_CR7","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201045","volume":"217","author":"Z Deng","year":"2020","unstructured":"Deng, Z. et al. A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome. J. Exp. Med. 217, e20201045 (2020).","journal-title":"J. Exp. Med."},{"key":"1184_CR8","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-29946-6","volume":"13","author":"A Steiner","year":"2022","unstructured":"Steiner, A. et al. Deficiency in coatomer complex I causes aberrant activation of STING signalling. Nat. Commun. 13, 2321 (2022).","journal-title":"Nat. Commun."},{"key":"1184_CR9","doi-asserted-by":"crossref","unstructured":"Lepelley, A. et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. J. Exp. Med. 2020;217:e20200600.","DOI":"10.1084\/jem.20200600"},{"key":"1184_CR10","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","volume":"87","author":"AK Agarwal","year":"2010","unstructured":"Agarwal, A. K. et al. PSMB8 encoding the \u03b25i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am. J. Hum. Genet. 87, 866\u2013872 (2010).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR11","doi-asserted-by":"publisher","first-page":"E58","DOI":"10.1210\/jc.2010-0488","volume":"95","author":"A Garg","year":"2010","unstructured":"Garg, A. et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J. Clin. Endocrinol. Metab. 95, E58\u2013E63 (2010).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"1184_CR12","doi-asserted-by":"publisher","first-page":"4150","DOI":"10.1172\/JCI58414","volume":"121","author":"A Kitamura","year":"2011","unstructured":"Kitamura, A. et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J. Clin. Invest. 121, 4150\u20134160 (2011).","journal-title":"J. Clin. Invest."},{"key":"1184_CR13","doi-asserted-by":"publisher","first-page":"14914","DOI":"10.1073\/pnas.1106015108","volume":"108","author":"K Arima","year":"2011","unstructured":"Arima, K. et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc. Natl Acad. Sci. USA 108, 14914\u201314919 (2011).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR14","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1084\/jem.20151529","volume":"213","author":"ME Meuwissen","year":"2016","unstructured":"Meuwissen, M. E. et al. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J. Exp. Med. 213, 1163\u20131174 (2016).","journal-title":"J. Exp. Med."},{"key":"1184_CR15","doi-asserted-by":"publisher","first-page":"eaav7501","DOI":"10.1126\/sciimmunol.aav7501","volume":"4","author":"CJA Duncan","year":"2019","unstructured":"Duncan, C.J.A. et al. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci. Immunol. 4, eaav7501 (2019).","journal-title":"Sci. Immunol."},{"key":"1184_CR16","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/nature13801","volume":"517","author":"X Zhang","year":"2015","unstructured":"Zhang, X. et al. Human intracellular ISG15 prevents interferon-\u03b1\/\u03b2 over-amplification and auto-inflammation. Nature 517, 89\u201393 (2015).","journal-title":"Nature"},{"key":"1184_CR17","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20192319","volume":"217","author":"C Gruber","year":"2020","unstructured":"Gruber, C. et al. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J. Exp. Med. 217, e20192319 (2020).","journal-title":"J. Exp. Med."},{"key":"1184_CR18","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1016\/S1474-4422(22)00167-3","volume":"21","author":"LL Becker","year":"2022","unstructured":"Becker, L. L. et al. Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement. Lancet Neurol. 21, 682\u2013686 (2022).","journal-title":"Lancet Neurol."},{"key":"1184_CR19","doi-asserted-by":"publisher","first-page":"2053","DOI":"10.1084\/jem.20101664","volume":"207","author":"G Trinchieri","year":"2010","unstructured":"Trinchieri, G. Type I interferon: friend or foe? J. Exp. Med. 207, 2053\u20132063 (2010).","journal-title":"J. Exp. Med."},{"key":"1184_CR20","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.cytogfr.2014.10.011","volume":"26","author":"MR Capobianchi","year":"2015","unstructured":"Capobianchi, M. R., Uleri, E., Caglioti, C. & Dolei, A. Type I IFN family members: similarity, differences and interaction. Cytokine Growth Factor. Rev. 26, 103\u2013111 (2015).","journal-title":"Cytokine Growth Factor. Rev."},{"key":"1184_CR21","doi-asserted-by":"publisher","first-page":"3296","DOI":"10.4049\/jimmunol.171.6.3296","volume":"171","author":"U Bave","year":"2003","unstructured":"Bave, U. et al. Fc\u03b3RIIa is expressed on natural IFN-\u03b1-producing cells (plasmacytoid dendritic cells) and is required for the IFN-\u03b1 production induced by apoptotic cells combined with lupus IgG. J. Immunol. 171, 3296\u20133302 (2003).","journal-title":"J. Immunol."},{"key":"1184_CR22","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1016\/j.cell.2020.02.041","volume":"180","author":"KA Fitzgerald","year":"2020","unstructured":"Fitzgerald, K. A. & Kagan, J. C. Toll-like receptors and the control of immunity. Cell 180, 1044\u20131066 (2020).","journal-title":"Cell"},{"key":"1184_CR23","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1007\/978-1-4939-3335-8_16","volume":"1390","author":"KL Moody","year":"2016","unstructured":"Moody, K. L., Uccellini, M. B., Avalos, A. M., Marshak-Rothstein, A. & Viglianti, G. A. Toll-like receptor-dependent immune complex activation of B cells and dendritic cells. Methods Mol. Biol. 1390, 249\u2013272 (2016).","journal-title":"Methods Mol. Biol."},{"key":"1184_CR24","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2100225118","volume":"118","author":"S Yum","year":"2021","unstructured":"Yum, S., Li, M., Fang, Y. & Chen, Z. J. TBK1 recruitment to STING activates both IRF3 and NF-\u03baB that mediate immune defense against tumors and viral infections. Proc. Natl Acad. Sci. USA 118, e2100225118 (2021).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR25","doi-asserted-by":"publisher","first-page":"eabi6763","DOI":"10.1126\/sciimmunol.abi6763","volume":"7","author":"S Davidson","year":"2022","unstructured":"Davidson, S. et al. Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24. Sci. Immunol. 7, eabi6763 (2022).","journal-title":"Sci. Immunol."},{"key":"1184_CR26","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/384364a0","volume":"384","author":"G Grouard","year":"1996","unstructured":"Grouard, G., Durand, I., Filgueira, L., Banchereau, J. & Liu, Y. J. Dendritic cells capable of stimulating T cells in germinal centres. Nature 384, 364\u2013367 (1996).","journal-title":"Nature"},{"key":"1184_CR27","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/s41586-022-04642-z","volume":"605","author":"GJ Brown","year":"2022","unstructured":"Brown, G. J. et al. TLR7 gain-of-function genetic variation causes human lupus. Nature 605, 349\u2013356 (2022).","journal-title":"Nature"},{"key":"1184_CR28","doi-asserted-by":"publisher","DOI":"10.1172\/JCI179193","volume":"134","author":"J Stremenova Spegarova","year":"2024","unstructured":"Stremenova Spegarova, J. et al. A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant. J. Clin. Invest. 134, e179193 (2024).","journal-title":"J. Clin. Invest."},{"key":"1184_CR29","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1007\/s10875-024-01660-6","volume":"44","author":"C David","year":"2024","unstructured":"David, C. et al. Interface gain-of-function mutations in TLR7 cause systemic and neuro-inflammatory disease. J. Clin. Immunol. 44, 60 (2024).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR30","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1038\/ni.3818","volume":"18","author":"SH Park","year":"2017","unstructured":"Park, S. H. et al. Type I interferons and the cytokine TNF cooperatively reprogram the macrophage epigenome to promote inflammatory activation. Nat. Immunol. 18, 1104\u20131116 (2017).","journal-title":"Nat. Immunol."},{"key":"1184_CR31","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1146\/annurev-virology-092818-015756","volume":"6","author":"JW Schoggins","year":"2019","unstructured":"Schoggins, J. W. Interferon-stimulated genes: what do they all do? Annu. Rev. Virol. 6, 567\u2013584 (2019).","journal-title":"Annu. Rev. Virol."},{"key":"1184_CR32","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.tips.2019.03.001","volume":"40","author":"GA Durham","year":"2019","unstructured":"Durham, G. A., Williams, J. J. L., Nasim, M. T. & Palmer, T. M. Targeting SOCS proteins to control JAK-STAT signalling in disease. Trends Pharmacol. Sci. 40, 298\u2013308 (2019).","journal-title":"Trends Pharmacol. Sci."},{"key":"1184_CR33","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1111\/imr.12305","volume":"266","author":"EM Linossi","year":"2015","unstructured":"Linossi, E. M. & Nicholson, S. E. Kinase inhibition, competitive binding and proteasomal degradation: resolving the molecular function of the suppressor of cytokine signaling (SOCS) proteins. Immunol. Rev. 266, 123\u2013133 (2015).","journal-title":"Immunol. Rev."},{"key":"1184_CR34","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.it.2016.11.001","volume":"38","author":"M Hermann","year":"2017","unstructured":"Hermann, M. & Bogunovic, D. ISG15: in sickness and in health. Trends Immunol. 38, 79\u201393 (2017).","journal-title":"Trends Immunol."},{"key":"1184_CR35","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/s41577-018-0029-z","volume":"18","author":"LB Ivashkiv","year":"2018","unstructured":"Ivashkiv, L. B. IFN\u03b3: signalling, epigenetics and roles in immunity, metabolism, disease and cancer immunotherapy. Nat. Rev. Immunol. 18, 545\u2013558 (2018).","journal-title":"Nat. Rev. Immunol."},{"key":"1184_CR36","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1111\/imr.13330","volume":"323","author":"B Mishra","year":"2024","unstructured":"Mishra, B. & Ivashkiv, L. B. Interferons and epigenetic mechanisms in training, priming and tolerance of monocytes and hematopoietic progenitors. Immunol. Rev. 323, 257\u2013275 (2024).","journal-title":"Immunol. Rev."},{"key":"1184_CR37","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.immuni.2012.05.020","volume":"37","author":"SC Ganal","year":"2012","unstructured":"Ganal, S. C. et al. Priming of natural killer cells by nonmucosal mononuclear phagocytes requires instructive signals from commensal microbiota. Immunity 37, 171\u2013186 (2012).","journal-title":"Immunity"},{"key":"1184_CR38","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.immuni.2012.04.011","volume":"37","author":"MC Abt","year":"2012","unstructured":"Abt, M. C. et al. Commensal bacteria calibrate the activation threshold of innate antiviral immunity. Immunity 37, 158\u2013170 (2012).","journal-title":"Immunity"},{"key":"1184_CR39","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.immuni.2012.01.011","volume":"36","author":"DJ Gough","year":"2012","unstructured":"Gough, D. J., Messina, N. L., Clarke, C. J., Johnstone, R. W. & Levy, D. E. Constitutive type I interferon modulates homeostatic balance through tonic signaling. Immunity 36, 166\u2013174 (2012).","journal-title":"Immunity"},{"key":"1184_CR40","doi-asserted-by":"publisher","first-page":"1574","DOI":"10.1038\/s41590-019-0466-2","volume":"20","author":"FJ Barrat","year":"2019","unstructured":"Barrat, F. J., Crow, M. K. & Ivashkiv, L. B. Interferon target-gene expression and epigenomic signatures in health and disease. Nat. Immunol. 20, 1574\u20131583 (2019).","journal-title":"Nat. Immunol."},{"key":"1184_CR41","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.immuni.2013.08.009","volume":"39","author":"Y Qiao","year":"2013","unstructured":"Qiao, Y. et al. Synergistic activation of inflammatory cytokine genes by interferon-gamma-induced chromatin remodeling and toll-like receptor signaling. Immunity 39, 454\u2013469 (2013).","journal-title":"Immunity"},{"key":"1184_CR42","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1080\/15592294.2015.1009764","volume":"10","author":"YT Leung","year":"2015","unstructured":"Leung, Y. T. et al. Interferon regulatory factor 1 and histone H4 acetylation in systemic lupus erythematosus. Epigenetics 10, 191\u2013199 (2015).","journal-title":"Epigenetics"},{"key":"1184_CR43","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ajmg.a.36887","volume":"167A","author":"YJ Crow","year":"2015","unstructured":"Crow, Y. J. et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am. J. Med. Genet. A 167A, 296\u2013312 (2015).","journal-title":"Am. J. Med. Genet. A"},{"key":"1184_CR44","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1136\/jmg.40.3.183","volume":"40","author":"YJ Crow","year":"2003","unstructured":"Crow, Y. J. et al. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon \u03b1 metabolism. J. Med. Genet. 40, 183\u2013187 (2003).","journal-title":"J. Med. Genet."},{"key":"1184_CR45","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1038\/ng.373","volume":"41","author":"GI Rice","year":"2009","unstructured":"Rice, G. I. et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat. Genet. 41, 829\u2013832 (2009).","journal-title":"Nat. Genet."},{"key":"1184_CR46","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1038\/ng.2414","volume":"44","author":"GI Rice","year":"2012","unstructured":"Rice, G. I. et al. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat. Genet. 44, 1243\u20131248 (2012).","journal-title":"Nat. Genet."},{"key":"1184_CR47","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1038\/ng.2933","volume":"46","author":"GI Rice","year":"2014","unstructured":"Rice, G. I. et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46, 503\u2013509 (2014).","journal-title":"Nat. Genet."},{"key":"1184_CR48","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","volume":"52","author":"C Uggenti","year":"2020","unstructured":"Uggenti, C. et al. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat. Genet. 52, 1364\u20131372 (2020).","journal-title":"Nat. Genet."},{"key":"1184_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2020.10.012","volume":"115","author":"C Piccoli","year":"2021","unstructured":"Piccoli, C. et al. Late-onset Aicardi-Gouti\u00e8res syndrome: a characterization of presenting clinical features. Pediatr. Neurol. 115, 1\u20136 (2021).","journal-title":"Pediatr. Neurol."},{"key":"1184_CR50","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1136\/jmedgenet-2013-102038","volume":"51","author":"JH Livingston","year":"2014","unstructured":"Livingston, J. H. et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J. Med. Genet. 51, 76\u201382 (2014).","journal-title":"J. Med. Genet."},{"key":"1184_CR51","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1055\/s-0037-1601449","volume":"48","author":"GI Rice","year":"2017","unstructured":"Rice, G. I. et al. Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease. Neuropediatrics 48, 166\u2013184 (2017).","journal-title":"Neuropediatrics"},{"key":"1184_CR52","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1055\/s-0034-1389161","volume":"45","author":"YJ Crow","year":"2014","unstructured":"Crow, Y. J. et al. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 45, 386\u2013393 (2014).","journal-title":"Neuropediatrics"},{"key":"1184_CR53","doi-asserted-by":"publisher","first-page":"750","DOI":"10.3390\/jcm8050750","volume":"8","author":"J Garau","year":"2019","unstructured":"Garau, J. et al. Molecular genetics and interferon signature in the Italian Aicardi Gouti\u00e8res syndrome cohort: report of 12 new cases and literature review. J. Clin. Med. 8, 750 (2019).","journal-title":"J. Clin. Med."},{"key":"1184_CR54","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1111\/j.1469-8749.2010.03727.x","volume":"52","author":"V Ramesh","year":"2010","unstructured":"Ramesh, V. et al. Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis. Dev. Med. Child. Neurol. 52, 725\u2013732 (2010).","journal-title":"Dev. Med. Child. Neurol."},{"key":"1184_CR55","doi-asserted-by":"publisher","first-page":"E1836","DOI":"10.1002\/humu.21357","volume":"31","author":"H Thiele","year":"2010","unstructured":"Thiele, H. et al. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum. Mutat. 31, E1836\u2013E1850 (2010).","journal-title":"Hum. Mutat."},{"key":"1184_CR56","doi-asserted-by":"publisher","first-page":"5372","DOI":"10.1073\/pnas.1014265108","volume":"108","author":"B Xin","year":"2011","unstructured":"Xin, B. et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc. Natl Acad. Sci. USA 108, 5372\u20135377 (2011).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR57","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1007\/s10875-016-0325-y","volume":"36","author":"M Cattalini","year":"2016","unstructured":"Cattalini, M. et al. Exploring autoimmunity in a cohort of children with genetically confirmed Aicardi-Goutieres syndrome. J. Clin. Immunol. 36, 693\u2013699 (2016).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR58","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1055\/s-0040-1722673","volume":"52","author":"F Gavazzi","year":"2021","unstructured":"Gavazzi, F. et al. Hepatic involvement in Aicardi-Goutieres syndrome. Neuropediatrics 52, 441\u2013447 (2021).","journal-title":"Neuropediatrics"},{"key":"1184_CR59","doi-asserted-by":"publisher","first-page":"1469","DOI":"10.1002\/art.27367","volume":"62","author":"G Ramantani","year":"2010","unstructured":"Ramantani, G. et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. Arthritis Rheum. 62, 1469\u20131477 (2010).","journal-title":"Arthritis Rheum."},{"key":"1184_CR60","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.pediatrneurol.2019.01.017","volume":"96","author":"D Samanta","year":"2019","unstructured":"Samanta, D., Ramakrishnaiah, R., Crary, S. E., Sukumaran, S. & Burrow, T. A. Multiple autoimmune disorders in Aicardi-Goutieres syndrome. Pediatr. Neurol. 96, 37\u201339 (2019).","journal-title":"Pediatr. Neurol."},{"key":"1184_CR61","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1007\/s10875-022-01209-5","volume":"42","author":"L Naesens","year":"2022","unstructured":"Naesens, L. et al. Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutieres syndrome with severe end-organ involvement. J. Clin. Immunol. 42, 962\u2013974 (2022).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR62","doi-asserted-by":"crossref","unstructured":"Akwa, Y. et al. Transgenic expression of IFN-\u03b1 in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J. Immunol. 161, 5016\u20135026 (1998).","DOI":"10.4049\/jimmunol.161.9.5016"},{"key":"1184_CR63","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.cell.2008.06.032","volume":"134","author":"DB Stetson","year":"2008","unstructured":"Stetson, D. B., Ko, J. S., Heidmann, T. & Medzhitov, R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 134, 587\u2013598 (2008).","journal-title":"Cell"},{"key":"1184_CR64","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.stem.2017.07.009","volume":"21","author":"CA Thomas","year":"2017","unstructured":"Thomas, C. A. et al. Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation. Cell Stem Cell 21, 319\u2013331.e8 (2017).","journal-title":"Cell Stem Cell"},{"key":"1184_CR65","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1038\/s12276-024-01177-3","volume":"56","author":"K Lee","year":"2024","unstructured":"Lee, K. et al. Inverted Alu repeats: friends or foes in the human transcriptome. Exp. Mol. Med. 56, 1250\u20131262 (2024).","journal-title":"Exp. Mol. Med."},{"key":"1184_CR66","doi-asserted-by":"publisher","first-page":"5491","DOI":"10.1093\/nar\/gkl706","volume":"34","author":"J Hasler","year":"2006","unstructured":"Hasler, J. & Strub, K. Alu elements as regulators of gene expression. Nucleic Acids Res. 34, 5491\u20135497 (2006).","journal-title":"Nucleic Acids Res."},{"key":"1184_CR67","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/j.cell.2017.12.016","volume":"172","author":"S Ahmad","year":"2018","unstructured":"Ahmad, S. et al. Breaching self-tolerance to alu duplex RNA underlies MDA5-mediated inflammation. Cell 172, 797\u2013810 e13 (2018).","journal-title":"Cell"},{"key":"1184_CR68","doi-asserted-by":"publisher","first-page":"eabq5423","DOI":"10.1126\/sciadv.abq5423","volume":"9","author":"E Ochoa","year":"2023","unstructured":"Ochoa, E. et al. Pathogenic tau-induced transposable element-derived dsRNA drives neuroinflammation. Sci. Adv. 9, eabq5423 (2023).","journal-title":"Sci. Adv."},{"key":"1184_CR69","doi-asserted-by":"publisher","first-page":"eadg2979","DOI":"10.1126\/sciimmunol.adg2979","volume":"8","author":"TJ Dorrity","year":"2023","unstructured":"Dorrity, T. J. et al. Long 3\u2019UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation. Sci. Immunol. 8, eadg2979 (2023).","journal-title":"Sci. Immunol."},{"key":"1184_CR70","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1038\/s41586-018-0784-9","volume":"566","author":"M Cecco","year":"2019","unstructured":"Cecco, M. et al. L1 drives IFN in senescent cells and promotes age-associated inflammation. Nature 566, 73\u201378 (2019).","journal-title":"Nature"},{"key":"1184_CR71","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1038\/s41586-023-06947-z","volume":"626","author":"ET Baldwin","year":"2024","unstructured":"Baldwin, E. T. et al. Structures, functions and adaptations of the human LINE-1 ORF2 protein. Nature 626, 194\u2013206 (2024).","journal-title":"Nature"},{"key":"1184_CR72","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1101\/gr.2530404","volume":"14","author":"DJ Hedges","year":"2004","unstructured":"Hedges, D. J. et al. Differential alu mobilization and polymorphism among the human and chimpanzee lineages. Genome Res. 14, 1068\u20131075 (2004).","journal-title":"Genome Res."},{"key":"1184_CR73","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1038\/nrg2640","volume":"10","author":"R Cordaux","year":"2009","unstructured":"Cordaux, R. & Batzer, M. A. The impact of retrotransposons on human genome evolution. Nat. Rev. Genet. 10, 691\u2013703 (2009).","journal-title":"Nat. Rev. Genet."},{"key":"1184_CR74","doi-asserted-by":"publisher","first-page":"13457","DOI":"10.1073\/pnas.1310914110","volume":"110","author":"F Hormozdiari","year":"2013","unstructured":"Hormozdiari, F. et al. Rates and patterns of great ape retrotransposition. Proc. Natl Acad. Sci. USA 110, 13457\u201313462 (2013).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR75","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1146\/annurev.biochem.71.110601.135501","volume":"71","author":"BL Bass","year":"2002","unstructured":"Bass, B. L. RNA editing by adenosine deaminases that act on RNA. Annu. Rev. Biochem. 71, 817\u2013846 (2002).","journal-title":"Annu. Rev. Biochem."},{"key":"1184_CR76","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1146\/annurev-biochem-060208-105251","volume":"79","author":"K Nishikura","year":"2010","unstructured":"Nishikura, K. Functions and regulation of RNA editing by ADAR deaminases. Annu. Rev. Biochem. 79, 321\u2013349 (2010).","journal-title":"Annu. Rev. Biochem."},{"key":"1184_CR77","doi-asserted-by":"publisher","first-page":"3868","DOI":"10.1093\/emboj\/18.13.3868","volume":"18","author":"M H\u00f6ss","year":"1999","unstructured":"H\u00f6ss, M. et al. A human DNA editing enzyme homologous to the Escherichia coli DnaQ\/MutD protein. EMBO J. 18, 3868\u20133875 (1999).","journal-title":"EMBO J."},{"key":"1184_CR78","doi-asserted-by":"publisher","first-page":"3974","DOI":"10.1093\/nar\/gkac214","volume":"50","author":"SH Kim","year":"2022","unstructured":"Kim, S. H., Kim, G. H., Kemp, M. G. & Choi, J. H. TREX1 degrades the 3\u2019 end of the small DNA oligonucleotide products of nucleotide excision repair in human cells. Nucleic Acids Res. 50, 3974\u20133984 (2022).","journal-title":"Nucleic Acids Res."},{"key":"1184_CR79","doi-asserted-by":"publisher","first-page":"4619","DOI":"10.1093\/nar\/gkx178","volume":"45","author":"P Li","year":"2017","unstructured":"Li, P. et al. Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. Nucleic Acids Res. 45, 4619\u20134631 (2017).","journal-title":"Nucleic Acids Res."},{"key":"1184_CR80","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1038\/ng2082","volume":"39","author":"A Richards","year":"2007","unstructured":"Richards, A. et al. C-terminal truncations in human 3\u2019-5\u2019 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat. Genet. 39, 1068\u20131070 (2007).","journal-title":"Nat. Genet."},{"key":"1184_CR81","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.jaut.2018.02.007","volume":"90","author":"K Zhao","year":"2018","unstructured":"Zhao, K. et al. LINE1 contributes to autoimmunity through both RIG-I- and MDA5-mediated RNA sensing pathways. J. Autoimmun. 90, 105\u2013115 (2018).","journal-title":"J. Autoimmun."},{"key":"1184_CR82","doi-asserted-by":"publisher","first-page":"10530","DOI":"10.1074\/jbc.M110.177394","volume":"286","author":"MA Reijns","year":"2011","unstructured":"Reijns, M. A. et al. The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease. J. Biol. Chem. 286, 10530\u201310539 (2011).","journal-title":"J. Biol. Chem."},{"key":"1184_CR83","doi-asserted-by":"publisher","first-page":"28025","DOI":"10.1074\/jbc.M202896200","volume":"277","author":"M Olivares","year":"2002","unstructured":"Olivares, M., Garcia-Perez, J. L., Thomas, M. C., Heras, S. R. & Lopez, M. C. The non-LTR (long terminal repeat) retrotransposon L1Tc from Trypanosoma cruzi codes for a protein with RNase H activity. J. Biol. Chem. 277, 28025\u201328030 (2002).","journal-title":"J. Biol. Chem."},{"key":"1184_CR84","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1016\/j.febslet.2005.12.077","volume":"580","author":"O Piskareva","year":"2006","unstructured":"Piskareva, O. & Schmatchenko, V. DNA polymerization by the reverse transcriptase of the human L1 retrotransposon on its own template in vitro. FEBS Lett. 580, 661\u2013668 (2006).","journal-title":"FEBS Lett."},{"key":"1184_CR85","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2022113104","volume":"42","author":"J Heuz\u00e9","year":"2023","unstructured":"Heuz\u00e9, J. et al. RNase H2 degrades toxic RNA:DNA hybrids behind stalled forks to promote replication restart. EMBO J. 42, e113104 (2023).","journal-title":"EMBO J."},{"key":"1184_CR86","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1016\/j.cell.2023.04.029","volume":"186","author":"H Zhitai","year":"2023","unstructured":"Zhitai, H. et al. RNA polymerase drives ribonucleotide excision DNA repair in E. coli. Cell 186, 2425\u20132437 (2023).","journal-title":"Cell"},{"key":"1184_CR87","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.cell.2019.08.055","volume":"179","author":"T Garc\u00eda-Muse","year":"2019","unstructured":"Garc\u00eda-Muse, T. & Aguilera, A. R loops: from physiological to pathological roles. Cell 179, 604\u2013618 (2019).","journal-title":"Cell"},{"key":"1184_CR88","doi-asserted-by":"publisher","first-page":"2937","DOI":"10.15252\/embj.201488726","volume":"33","author":"K Mankan","year":"2014","unstructured":"Mankan, K. et al. Cytosolic RNA:DNA hybrids activate the cGAS\u2013STING axis. EMBO J. 33, 2937\u20132946 (2014).","journal-title":"EMBO J."},{"key":"1184_CR89","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-30604-0","volume":"13","author":"A Cristini","year":"2022","unstructured":"Cristini, A. et al. RNase H2, mutated in Aicardi-Goutieres syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation. Nat. Commun. 13, 2961 (2022).","journal-title":"Nat. Commun."},{"key":"1184_CR90","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/ni.2236","volume":"13","author":"H Lahouassa","year":"2012","unstructured":"Lahouassa, H. et al. SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates. Nat. Immunol. 13, 223\u2013228 (2012).","journal-title":"Nat. Immunol."},{"key":"1184_CR91","doi-asserted-by":"publisher","first-page":"8101","DOI":"10.1074\/jbc.M112.431148","volume":"288","author":"N Beloglazova","year":"2013","unstructured":"Beloglazova, N. et al. Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. J. Biol. Chem. 288, 8101\u20138110 (2013).","journal-title":"J. Biol. Chem."},{"key":"1184_CR92","doi-asserted-by":"publisher","first-page":"3712","DOI":"10.1016\/j.molcel.2022.08.031","volume":"82","author":"S Maharana","year":"2022","unstructured":"Maharana, S. et al. SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA. Mol. Cell 82, 3712\u20133728 e10 (2022).","journal-title":"Mol. Cell"},{"key":"1184_CR93","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005367","volume":"11","author":"S Hu","year":"2015","unstructured":"Hu, S. et al. SAMHD1 inhibits LINE-1 retrotransposition by promoting stress granule formation. PLoS Genet. 11, e1005367 (2015).","journal-title":"PLoS Genet."},{"key":"1184_CR94","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/S0161-6420(88)33131-3","volume":"95","author":"MG Grand","year":"1988","unstructured":"Grand, M. G. et al. Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology 95, 649\u2013659 (1988).","journal-title":"Ophthalmology"},{"key":"1184_CR95","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1177\/112067219100100204","volume":"1","author":"CW Storimans","year":"1991","unstructured":"Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A. & Bos, P. J. A new autosomal dominant vascular retinopathy syndrome. Eur. J. Ophthalmol. 1, 73\u201378 (1991).","journal-title":"Eur. J. Ophthalmol."},{"key":"1184_CR96","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1111\/j.1442-9071.2005.00976.x","volume":"33","author":"AC Cohn","year":"2005","unstructured":"Cohn, A. C., Kotschet, K., Veitch, A., Delatycki, M. B. & McCombe, M. F. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin. Exp. Ophthalmol. 33, 181\u2013183 (2005).","journal-title":"Clin. Exp. Ophthalmol."},{"key":"1184_CR97","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/j.immuni.2015.07.022","volume":"43","author":"M Hasan","year":"2015","unstructured":"Hasan, M. et al. Cytosolic nuclease TREX1 regulates oligosaccharyltransferase activity independent of nuclease activity to suppress immune activation. Immunity 43, 463\u2013474 (2015).","journal-title":"Immunity"},{"key":"1184_CR98","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1007\/s00109-007-0199-9","volume":"85","author":"MA Lee-Kirsch","year":"2007","unstructured":"Lee-Kirsch, M. A. et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J. Mol. Med. 85, 531\u2013537 (2007).","journal-title":"J. Mol. Med."},{"key":"1184_CR99","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1002\/ajmg.a.33778","volume":"155A","author":"JC Ravenscroft","year":"2011","unstructured":"Ravenscroft, J. C., Suri, M., Rice, G. I., Szynkiewicz, M. & Crow, Y. J. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am. J. Med. Genet. A 155A, 235\u2013237 (2011).","journal-title":"Am. J. Med. Genet. A"},{"key":"1184_CR100","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1136\/annrheumdis-2016-209841","volume":"76","author":"N Konig","year":"2017","unstructured":"Konig, N. et al. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann. Rheum. Dis. 76, 468\u2013472 (2017).","journal-title":"Ann. Rheum. Dis."},{"key":"1184_CR101","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1148\/118.2.389","volume":"118","author":"BB Gay Jr","year":"1976","unstructured":"Gay, B. B. Jr & Kuhn, J. P. A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). Radiology 118, 389\u2013395 (1976).","journal-title":"Radiology"},{"key":"1184_CR102","doi-asserted-by":"publisher","first-page":"875490","DOI":"10.3389\/fgene.2022.875490","volume":"13","author":"MC Riou","year":"2022","unstructured":"Riou, M. C. et al. Oral phenotype of Singleton-Merten syndrome: a systematic review illustrated with a case report. Front. Genet. 13, 875490 (2022).","journal-title":"Front. Genet."},{"key":"1184_CR103","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1111\/bjd.14073","volume":"173","author":"AC Bursztejn","year":"2015","unstructured":"Bursztejn, A. C. et al. 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\u20131513 (2015).","journal-title":"Br. J. Dermatol."},{"key":"1184_CR104","doi-asserted-by":"publisher","first-page":"2081","DOI":"10.1002\/art.40179","volume":"69","author":"LM de Carvalho","year":"2017","unstructured":"de Carvalho, L. M. et al. Musculoskeletal disease in MDA5-related type I interferonopathy: a mendelian mimic of Jaccoud\u2019s arthropathy. Arthritis Rheumatol. 69, 2081\u20132091 (2017).","journal-title":"Arthritis Rheumatol."},{"key":"1184_CR105","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.ajhg.2014.11.019","volume":"96","author":"MA Jang","year":"2015","unstructured":"Jang, M. A. et al. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am. J. Hum. Genet. 96, 266\u2013274 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR106","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1038\/ng2091","volume":"39","author":"MA Lee-Kirsch","year":"2007","unstructured":"Lee-Kirsch, M. A. et al. Mutations in the gene encoding the 3\u2019-5\u2019 DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39, 1065\u20131067 (2007).","journal-title":"Nat. Genet."},{"key":"1184_CR107","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1172\/JCI78001","volume":"125","author":"C G\u00fcnther","year":"2015","unstructured":"G\u00fcnther, C. et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J. Clin. Invest. 125, 413\u2013424 (2015).","journal-title":"J. Clin. Invest."},{"key":"1184_CR108","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/j.jaci.2016.10.031","volume":"140","author":"I Melki","year":"2017","unstructured":"Melki, I. et al. Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling. J. Allergy Clin. Immunol. 140, 543\u2013552 e5 (2017).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR109","doi-asserted-by":"publisher","first-page":"636225","DOI":"10.3389\/fimmu.2021.636225","volume":"12","author":"B Lin","year":"2021","unstructured":"Lin, B. et al. Case report: novel SAVI-causing variants in STING1 expand the clinical disease spectrum and suggest a refined model of STING activation. Front. Immunol. 12, 636225 (2021).","journal-title":"Front. Immunol."},{"key":"1184_CR110","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1016\/j.jaci.2020.06.032","volume":"146","author":"B Lin","year":"2020","unstructured":"Lin, B. et al. A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI). J. Allergy Clin. Immunol. 146, 1204\u20131208 e6 (2020).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR111","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1038\/ng.3279","volume":"47","author":"LB Watkin","year":"2015","unstructured":"Watkin, L. B. et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat. Genet. 47, 654\u2013660 (2015).","journal-title":"Nat. Genet."},{"key":"1184_CR112","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1001\/jamadermatol.2015.0251","volume":"151","author":"J Munoz","year":"2015","unstructured":"Munoz, J. et al. Stimulator of interferon genes-associated vasculopathy with onset in infancy : a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatol. 151, 872\u2013877 (2015).","journal-title":"JAMA Dermatol."},{"key":"1184_CR113","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1002\/art.38998","volume":"67","author":"E Omoyinmi","year":"2015","unstructured":"Omoyinmi, E. et al. Stimulator of interferon genes-associated vasculitis of infancy. Arthritis Rheumatol. 67, 808 (2015).","journal-title":"Arthritis Rheumatol."},{"key":"1184_CR114","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1016\/j.jaad.2015.10.007","volume":"74","author":"J Chia","year":"2016","unstructured":"Chia, J. et al. Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. J. Am. Acad. Dermatol. 74, 186\u2013189 (2016).","journal-title":"J. Am. Acad. Dermatol."},{"key":"1184_CR115","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1001\/jamadermatol.2015.0251","volume":"151","author":"J Munoz","year":"2015","unstructured":"Munoz, J. et al. Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatol. 151, 872\u2013877 (2015).","journal-title":"JAMA Dermatol."},{"key":"1184_CR116","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1016\/j.jaci.2016.10.030","volume":"139","author":"J Seo","year":"2017","unstructured":"Seo, J. et al. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J. Allergy Clin. Immunol. 139, 1396\u20131399 e12 (2017).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR117","doi-asserted-by":"publisher","first-page":"e65","DOI":"10.1016\/j.chest.2016.02.682","volume":"150","author":"C Picard","year":"2016","unstructured":"Picard, C. et al. Severe pulmonary fibrosis as the first manifestation of interferonopathy (TMEM173 mutation). Chest 150, e65\u2013e71 (2016).","journal-title":"Chest"},{"key":"1184_CR118","doi-asserted-by":"publisher","first-page":"1495","DOI":"10.1002\/art.40122","volume":"69","author":"ML Fremond","year":"2017","unstructured":"Fremond, M. L. et al. Brief report: blockade of TANK-binding kinase 1\/IKKvar\u03b5 inhibits mutant stimulator of interferon genes (STING)-mediated inflammatory responses in human peripheral blood mononuclear cells. Arthritis Rheumatol. 69, 1495\u20131501 (2017).","journal-title":"Arthritis Rheumatol."},{"key":"1184_CR119","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0490-8","volume":"18","author":"BO Jensson","year":"2017","unstructured":"Jensson, B. O. et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. BMC Med. Genet. 18, 129 (2017).","journal-title":"BMC Med. Genet."},{"key":"1184_CR120","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.clim.2017.10.001","volume":"187","author":"S Volpi","year":"2018","unstructured":"Volpi, S. et al. Type I interferon pathway activation in COPA syndrome. Clin. Immunol. 187, 33\u201336 (2018).","journal-title":"Clin. Immunol."},{"key":"1184_CR121","doi-asserted-by":"crossref","unstructured":"Tsui, J. L. et al. Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Res. 4, 00017-2018 (2018).","DOI":"10.1183\/23120541.00017-2018"},{"key":"1184_CR122","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/s00247-017-3961-3","volume":"48","author":"R Noorelahi","year":"2018","unstructured":"Noorelahi, R., Perez, G. & Otero, H. J. Imaging findings of Copa syndrome in a 12-year-old boy. Pediatr. Radiol. 48, 279\u2013282 (2018).","journal-title":"Pediatr. Radiol."},{"key":"1184_CR123","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/j.jaip.2020.11.007","volume":"9","author":"ML Fremond","year":"2021","unstructured":"Fremond, M. L. et al. Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients. J. Allergy Clin. Immunol. Pract. 9, 803\u2013818 e11 (2021).","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"1184_CR124","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1007\/s10875-016-0271-8","volume":"36","author":"TJ Vece","year":"2016","unstructured":"Vece, T. J. et al. Copa syndrome: a novel autosomal dominant immune dysregulatory disease. J. Clin. Immunol. 36, 377\u2013387 (2016).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR125","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1136\/jmedgenet-2018-105560","volume":"56","author":"AM Taveira-DaSilva","year":"2018","unstructured":"Taveira-DaSilva, A. M. et al. Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. J. Med. Genet. 56, 778\u2013782 (2018).","journal-title":"J. Med. Genet."},{"key":"1184_CR126","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1016\/j.kint.2022.02.031","volume":"101","author":"L Lodi","year":"2022","unstructured":"Lodi, L. et al. Type I interferon-related kidney disorders. Kidney Int. 101, 1142\u20131159 (2022).","journal-title":"Kidney Int."},{"key":"1184_CR127","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1007\/s10875-021-00974-z","volume":"41","author":"ML Fremond","year":"2021","unstructured":"Fremond, M. L. & Crow, Y. J. STING-mediated lung inflammation and beyond. J. Clin. Immunol. 41, 501\u2013514 (2021).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR128","doi-asserted-by":"publisher","first-page":"19386","DOI":"10.1073\/pnas.1215006109","volume":"109","author":"J Ahn","year":"2012","unstructured":"Ahn, J., Gutman, D., Saijo, S. & Barber, G. N. STING manifests self DNA-dependent inflammatory disease. Proc. Natl Acad. Sci. USA 109, 19386\u201319391 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR129","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1126\/science.1229963","volume":"339","author":"J Wu","year":"2013","unstructured":"Wu, J. et al. Cyclic GMP-AMP is an endogenous second messenger in innate immune signaling by cytosolic DNA. Science 339, 826\u2013830 (2013).","journal-title":"Science"},{"key":"1184_CR130","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1038\/s41586-019-1000-2","volume":"567","author":"C Zhang","year":"2019","unstructured":"Zhang, C. et al. Structural basis of STING binding with and phosphorylation by TBK1. Nature 567, 394\u2013398 (2019).","journal-title":"Nature"},{"key":"1184_CR131","doi-asserted-by":"publisher","first-page":"ra20","DOI":"10.1126\/scisignal.2002521","volume":"5","author":"Y Tanaka","year":"2012","unstructured":"Tanaka, Y. & Chen, Z. J. STING specifies IRF3 phosphorylation by TBK1 in the cytosolic DNA signaling pathway. Sci. Signal. 5, ra20 (2012).","journal-title":"Sci. Signal."},{"key":"1184_CR132","doi-asserted-by":"publisher","first-page":"5328","DOI":"10.1128\/JVI.00037-14","volume":"88","author":"T Abe","year":"2014","unstructured":"Abe, T. & Barber, G. N. Cytosolic-DNA-mediated, STING-dependent proinflammatory gene induction necessitates canonical NF-\u03baB activation through TBK1. J. Virol. 88, 5328\u20135341 (2014).","journal-title":"J. Virol."},{"key":"1184_CR133","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1038\/nature07317","volume":"455","author":"H Ishikawa","year":"2008","unstructured":"Ishikawa, H. & Barber, G. N. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature 455, 674\u2013678 (2008).","journal-title":"Nature"},{"key":"1184_CR134","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20220990","volume":"220","author":"D Jeltema","year":"2023","unstructured":"Jeltema, D., Abbott, K. & Yan, N. STING trafficking as a new dimension of immune signaling. J. Exp. Med. 220, e20220990 (2023).","journal-title":"J. Exp. Med."},{"key":"1184_CR135","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1038\/s41590-020-0730-5","volume":"21","author":"BC Zhang","year":"2020","unstructured":"Zhang, B. C. et al. STEEP mediates STING ER exit and activation of signaling. Nat. Immunol. 21, 868\u2013879 (2020).","journal-title":"Nat. Immunol."},{"key":"1184_CR136","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1152\/physrev.00020.2014","volume":"95","author":"M Prakriya","year":"2015","unstructured":"Prakriya, M. & Lewis, R. S. Store-operated calcium channels. Physiol. Rev. 95, 1383\u20131436 (2015).","journal-title":"Physiol. Rev."},{"key":"1184_CR137","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/s41590-018-0287-8","volume":"20","author":"S Srikanth","year":"2019","unstructured":"Srikanth, S. et al. The Ca2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum. Nat. Immunol. 20, 152\u2013162 (2019).","journal-title":"Nat. Immunol."},{"key":"1184_CR138","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1126\/science.271.5255.1526","volume":"271","author":"R Schekman","year":"1996","unstructured":"Schekman, R. & Orci, L. Coat proteins and vesicle budding. Science 271, 1526\u20131533 (1996).","journal-title":"Science"},{"key":"1184_CR139","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-42150-4","volume":"14","author":"M Hirschenberger","year":"2023","unstructured":"Hirschenberger, M. et al. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. Nat. Commun. 14, 6770 (2023).","journal-title":"Nat. Commun."},{"key":"1184_CR140","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1093\/hmg\/ddac279","volume":"32","author":"M Ishida","year":"2023","unstructured":"Ishida, M. et al. A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1. Hum. Mol. Genet. 32, 1162\u20131174 (2023).","journal-title":"Hum. Mol. Genet."},{"key":"1184_CR141","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1038\/s41586-022-05354-0","volume":"610","author":"Y Liu","year":"2022","unstructured":"Liu, Y. et al. Clathrin-associated AP-1 controls termination of STING signalling. Nature 610, 761\u2013767 (2022).","journal-title":"Nature"},{"key":"1184_CR142","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1038\/s41556-023-01138-4","volume":"25","author":"Y Ji","year":"2023","unstructured":"Ji, Y. et al. SEL1L-HRD1 endoplasmic reticulum-associated degradation controls STING-mediated innate immunity by limiting the size of the activable STING pool. Nat. Cell Biol. 25, 726\u2013739 (2023).","journal-title":"Nat. Cell Biol."},{"key":"1184_CR143","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1126\/science.adf8974","volume":"381","author":"B Liu","year":"2023","unstructured":"Liu, B. et al. Human STING is a proton channel. Science 381, 508\u2013514 (2023).","journal-title":"Science"},{"key":"1184_CR144","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/s41586-022-04421-w","volume":"603","author":"JD Domizio","year":"2022","unstructured":"Domizio, J. D. et al. The cGAS-STING pathway drives type I IFN immunopathology in COVID-19. Nature 603, 145\u2013151 (2022).","journal-title":"Nature"},{"key":"1184_CR145","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.dnarep.2011.10.007","volume":"11","author":"SL Bailey","year":"2012","unstructured":"Bailey, S. L., Harvey, S., Perrino, F. W. & Hollis, T. Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease. DNA Repair. 11, 65\u201373 (2012).","journal-title":"DNA Repair."},{"key":"1184_CR146","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1016\/j.immuni.2020.02.002","volume":"52","author":"LS Huang","year":"2020","unstructured":"Huang, L. S. et al. mtDNA activates cGAS signaling and suppresses the YAP-mediated endothelial cell proliferation program to promote inflammatory injury. Immunity 52, 475\u2013486.e5 (2020).","journal-title":"Immunity"},{"key":"1184_CR147","doi-asserted-by":"publisher","DOI":"10.1186\/s12983-021-00448-3","volume":"19","author":"J Lubawy","year":"2022","unstructured":"Lubawy, J., Chowa\u0144ski, S., Adamski, Z. & S\u0142oci\u0144ska, M. Mitochondria as a target and central hub of energy division during cold stress in insects. Front. Zool. 19, 1 (2022).","journal-title":"Front. Zool."},{"key":"1184_CR148","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.jaci.2019.01.044","volume":"144","author":"H Luksch","year":"2019","unstructured":"Luksch, H. et al. STING-associated lung disease in mice relies on T cells but not type I interferon. J. Allergy Clin. Immunol. 144, 254\u2013266.e8 (2019).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR149","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1097\/MOH.0000000000000239","volume":"23","author":"P Lertkiatmongkol","year":"2016","unstructured":"Lertkiatmongkol, P., Liao, D., Mei, H., Hu, Y. & Newman, P. J. Endothelial functions of platelet\/endothelial cell adhesion molecule-1 (CD31). Curr. Opin. Hematol. 23, 253\u2013259 (2016).","journal-title":"Curr. Opin. Hematol."},{"key":"1184_CR150","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1159\/000493101","volume":"10","author":"SM Chatfield","year":"2018","unstructured":"Chatfield, S. M., Thieblemont, N. & Witko-Sarsat, V. Expanding neutrophil horizons: new concepts in inflammation. J. Innate Immun. 10, 422\u2013431 (2018).","journal-title":"J. Innate Immun."},{"key":"1184_CR151","doi-asserted-by":"publisher","DOI":"10.1111\/acel.13234","volume":"19","author":"SM Frisch","year":"2020","unstructured":"Frisch, S. M. & MacFawn, I. P. Type I interferons and related pathways in cell senescence. Aging Cell 19, e13234 (2020).","journal-title":"Aging Cell"},{"key":"1184_CR152","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/B978-0-12-397863-9.00003-1","volume":"109","author":"DA Ferrington","year":"2012","unstructured":"Ferrington, D. A. & Gregerson, D. S. Immunoproteasomes: structure, function, and antigen presentation. Prog. Mol. Biol. Transl. Sci. 109, 75\u2013112 (2012).","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"1184_CR153","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1002\/art.33368","volume":"64","author":"Y Liu","year":"2012","unstructured":"Liu, Y. et al. Mutations in proteasome subunit \u03b2 type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 64, 895\u2013907 (2012).","journal-title":"Arthritis Rheum."},{"key":"1184_CR154","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1016\/j.jaci.2018.12.1012","volume":"143","author":"AA de Jesus","year":"2019","unstructured":"de Jesus, A. A. et al. Novel proteasome assembly chaperone mutations in PSMG2\/PAC2 cause the autoinflammatory interferonopathy CANDLE\/PRAAS4. J. Allergy Clin. Immunol. 143, 1939\u20131943.e8 (2019).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR155","doi-asserted-by":"publisher","first-page":"4196","DOI":"10.1172\/JCI81260","volume":"125","author":"A Brehm","year":"2015","unstructured":"Brehm, A. et al. Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production. J. Clin. Invest. 125, 4196\u20134211 (2015).","journal-title":"J. Clin. Invest."},{"key":"1184_CR156","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","volume":"102","author":"MC Poli","year":"2018","unstructured":"Poli, M. C. et al. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome. Am. J. Hum. Genet. 102, 1126\u20131142 (2018).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR157","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1016\/j.jaci.2021.03.010","volume":"148","author":"S Kataoka","year":"2021","unstructured":"Kataoka, S. et al. Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor. J. Allergy Clin. Immunol. 148, 639\u2013644 (2021).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR158","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.ajhg.2024.02.013","volume":"111","author":"CI van der Made","year":"2024","unstructured":"van der Made, C. I. et al. Expanding the PRAAS spectrum: de novo mutations of immunoproteasome subunit \u03b2-type 10 in six infants with SCID-Omenn syndrome.Am. J. Hum. Genet. 111, 791\u2013804 (2024).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR159","unstructured":"Alehashemi, S. et al. A de novo dominant-negative PSMB8 mutation is linked to a more severe CANDLE-like phenotype [abstract]. Arthritis Rheumatol. 74 (suppl. 9), abstract number 1936 (2022)."},{"key":"1184_CR160","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.1093\/hmg\/ddaa032","volume":"29","author":"M Ansar","year":"2020","unstructured":"Ansar, M. et al. Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Hum. Mol. Genet. 29, 1132\u20131143 (2020).","journal-title":"Hum. Mol. Genet."},{"key":"1184_CR161","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.ajhg.2017.01.003","volume":"100","author":"S Kury","year":"2017","unstructured":"Kury, S. et al. De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder. Am. J. Hum. Genet. 100, 352\u2013363 (2017).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR162","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1002\/ajmg.b.32688","volume":"177","author":"R Khalil","year":"2018","unstructured":"Khalil, R. et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am. J. Med. Genet. B Neuropsychiatr. Genet. 177, 736\u2013745 (2018).","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"1184_CR163","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.gim.2021.09.005","volume":"24","author":"B Isidor","year":"2022","unstructured":"Isidor, B. et al. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet. Med. 24, 179\u2013191 (2022).","journal-title":"Genet. Med."},{"key":"1184_CR164","first-page":"1","volume":"23","author":"H Zhang","year":"2022","unstructured":"Zhang, H. et al. PSMD12 promotes the activation of the MEK-ERK pathway by upregulating KIF15 to promote the malignant progression of liver cancer. Cancer Biol. Ther. 23, 1\u201311 (2022).","journal-title":"Cancer Biol. Ther."},{"key":"1184_CR165","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1016\/j.ajhg.2024.05.016","volume":"11","author":"W Deb","year":"2024","unstructured":"Deb, W. et al. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am. J. Hum. Genet. 11, 1352\u20131369 (2024).","journal-title":"Am. J. Hum. Genet."},{"key":"1184_CR166","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1111\/cge.14195","volume":"102","author":"S Aharoni","year":"2022","unstructured":"Aharoni, S. et al. PSMC1 variant causes a novel neurological syndrome. Clin. Genet. 102, 324\u2013332 (2022).","journal-title":"Clin. Genet."},{"key":"1184_CR167","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201911861","volume":"12","author":"A Kroll-Hermi","year":"2020","unstructured":"Kroll-Hermi, A. et al. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. EMBO Mol. Med. 12, e11861 (2020).","journal-title":"EMBO Mol. Med."},{"key":"1184_CR168","doi-asserted-by":"publisher","unstructured":"K\u00fcry, S. et al. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Preprint at medRxiv https:\/\/doi.org\/10.1101\/2024.01.13.24301174 (2024).","DOI":"10.1101\/2024.01.13.24301174"},{"key":"1184_CR169","doi-asserted-by":"publisher","first-page":"197","DOI":"10.2332\/allergolint.11-RAI-0416","volume":"61","author":"N Kanazawa","year":"2012","unstructured":"Kanazawa, N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol. Int. 61, 197\u2013206 (2012).","journal-title":"Allergol. Int."},{"key":"1184_CR170","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1002\/acr.23506","volume":"70","author":"D Buchbinder","year":"2018","unstructured":"Buchbinder, D., Montealegre Sanchez, G. A., Goldbach-Mansky, R., Brunner, H. & Shulman, A. I. Rash, fever, and pulmonary hypertension in a 6-year-old female. Arthritis Care Res. 70, 785\u2013790 (2018).","journal-title":"Arthritis Care Res."},{"key":"1184_CR171","doi-asserted-by":"publisher","first-page":"3041","DOI":"10.1172\/JCI98814","volume":"128","author":"GAM Sanchez","year":"2018","unstructured":"Sanchez, G. A. M. et al. JAK1\/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J. Clin. Invest. 128, 3041\u20133052 (2018).","journal-title":"J. Clin. Invest."},{"key":"1184_CR172","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1111\/1756-185X.13228","volume":"21","author":"SM Al-Mayouf","year":"2018","unstructured":"Al-Mayouf, S. M. et al. Monogenic interferonopathies: phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE. Int. J. Rheum. Dis. 21, 208\u2013213 (2018).","journal-title":"Int. J. Rheum. Dis."},{"key":"1184_CR173","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1016\/j.jaad.2009.04.046","volume":"62","author":"A Torrelo","year":"2010","unstructured":"Torrelo, A. et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J. Am. Acad. Dermatol. 62, 489\u2013495 (2010).","journal-title":"J. Am. Acad. Dermatol."},{"key":"1184_CR174","doi-asserted-by":"publisher","first-page":"75","DOI":"10.18176\/jiaci.0338","volume":"29","author":"MA Yamazaki-Nakashimada","year":"2019","unstructured":"Yamazaki-Nakashimada, M. A. et al. Systemic autoimmunity in a patient with CANDLE syndrome. J. Investig. Allergol. Clin. Immunol. 29, 75\u201376 (2019).","journal-title":"J. Investig. Allergol. Clin. Immunol."},{"key":"1184_CR175","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.jaci.2015.09.025","volume":"137","author":"L Gamez-Diaz","year":"2016","unstructured":"Gamez-Diaz, L. et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol. 137, 223\u2013230 (2016).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR176","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-27085-y","volume":"12","author":"N Kanazawa","year":"2021","unstructured":"Kanazawa, N. et al. Heterozygous missense variant of the proteasome subunit \u03b2-type 9 causes neonatal-onset autoinflammation and immunodeficiency. Nat. Commun. 12, 6819 (2021).","journal-title":"Nat. Commun."},{"key":"1184_CR177","doi-asserted-by":"publisher","first-page":"1422","DOI":"10.3390\/cells11091422","volume":"11","author":"JJ Papendorf","year":"2022","unstructured":"Papendorf, J. J., Kruger, E. & Ebstein, F. Proteostasis perturbations and their roles in causing sterile inflammation and autoinflammatory diseases. Cells 11, 1422 (2022).","journal-title":"Cells"},{"key":"1184_CR178","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1042\/BST0350012","volume":"35","author":"AL Goldberg","year":"2007","unstructured":"Goldberg, A. L. Functions of the proteasome: from protein degradation and immune surveillance to cancer therapy. Biochem. Soc. Trans. 35, 12\u201317 (2007).","journal-title":"Biochem. Soc. Trans."},{"key":"1184_CR179","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1038\/s41421-020-0141-7","volume":"6","author":"WW Yim","year":"2020","unstructured":"Yim, W. W. & Mizushima, N. Lysosome biology in autophagy. Cell Discov. 6, 6 (2020).","journal-title":"Cell Discov."},{"key":"1184_CR180","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.molcel.2012.08.003","volume":"48","author":"A Suraweera","year":"2012","unstructured":"Suraweera, A., Munch, C., Hanssum, A. & Bertolotti, A. Failure of amino acid homeostasis causes cell death following proteasome inhibition. Mol. Cell 48, 242\u2013253 (2012).","journal-title":"Mol. Cell"},{"key":"1184_CR181","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/35056572","volume":"2","author":"PM Kloetzel","year":"2001","unstructured":"Kloetzel, P. M. Antigen processing by the proteasome. Nat. Rev. Mol. Cell Biol. 2, 179\u2013187 (2001).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"1184_CR182","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0065-2776(02)80012-8","volume":"80","author":"KL Rock","year":"2002","unstructured":"Rock, K. L., York, I. A., Saric, T. & Goldberg, A. L. Protein degradation and the generation of MHC class I-presented peptides. Adv. Immunol. 80, 1\u201370 (2002).","journal-title":"Adv. Immunol."},{"key":"1184_CR183","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1084\/jem.187.1.97","volume":"187","author":"TA Griffin","year":"1998","unstructured":"Griffin, T. A. et al. Immunoproteasome assembly: cooperative incorporation of interferon gamma (IFN-\u03b3)-inducible subunits. J. Exp. Med. 187, 97\u2013104 (1998).","journal-title":"J. Exp. Med."},{"key":"1184_CR184","doi-asserted-by":"publisher","first-page":"24156","DOI":"10.1074\/jbc.M001742200","volume":"275","author":"DJ Kingsbury","year":"2000","unstructured":"Kingsbury, D. J., Griffin, T. A. & Colbert, R. A. Novel propeptide function in 20S proteasome assembly influences \u03b2 subunit composition. J. Biol. Chem. 275, 24156\u201324162 (2000).","journal-title":"J. Biol. Chem."},{"key":"1184_CR185","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1190104","volume":"14","author":"JJ Papendorf","year":"2023","unstructured":"Papendorf, J. J. et al. Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS). Front. Immunol. 14, 1190104 (2023).","journal-title":"Front. Immunol."},{"key":"1184_CR186","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1038\/nrm2630","volume":"10","author":"S Murata","year":"2009","unstructured":"Murata, S., Yashiroda, H. & Tanaka, K. Molecular mechanisms of proteasome assembly. Nat. Rev. Mol. Cell Biol. 10, 104\u2013115 (2009).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"1184_CR187","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1006\/abbi.1996.0195","volume":"329","author":"L Kuehn","year":"1996","unstructured":"Kuehn, L. & Dahlmann, B. Proteasome activator PA28 and its interaction with 20S proteasomes. Arch. Biochem. Biophys. 329, 87\u201396 (1996).","journal-title":"Arch. Biochem. Biophys."},{"key":"1184_CR188","first-page":"213","volume":"41","author":"D Di Cola","year":"1992","unstructured":"Di Cola, D. Human erythrocyte contains a factor that stimulates the peptidase activities of multicatalytic proteinase complex. Ital. J. Biochem. 41, 213\u2013224 (1992).","journal-title":"Ital. J. Biochem."},{"key":"1184_CR189","first-page":"403","volume":"20","author":"M Pepelnjak","year":"2024","unstructured":"Pepelnjak, M. et al. Systematic identification of 20S proteasome substrates. Mol. Syst. Biol. 20, 403\u2013427 (2024).","journal-title":"Mol. Syst. Biol."},{"key":"1184_CR190","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.molcel.2004.10.017","volume":"16","author":"JM Baugh","year":"2004","unstructured":"Baugh, J. M. & Pilipenko, E. V. 20S proteasome differentially alters translation of different mRNAs via the cleavage of eIF4F and eIF3. Mol. Cell. 16, 575\u2013586 (2004).","journal-title":"Mol. Cell."},{"key":"1184_CR191","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.molcel.2010.09.012","volume":"40","author":"J Steffen","year":"2010","unstructured":"Steffen, J., Seeger, M., Koch, A. & Kruger, E. Proteasomal degradation is transcriptionally controlled by TCF11 via an ERAD-dependent feedback loop. Mol. Cell 40, 147\u2013158 (2010).","journal-title":"Mol. Cell"},{"key":"1184_CR192","doi-asserted-by":"publisher","first-page":"4285","DOI":"10.3390\/ijms24054285","volume":"24","author":"C Zhao","year":"2023","unstructured":"Zhao, C. et al. Multiple roles of the stress sensor GCN2 in immune cells. Int. J. Mol. Sci. 24, 4285 (2023).","journal-title":"Int. J. Mol. Sci."},{"key":"1184_CR193","doi-asserted-by":"publisher","first-page":"540","DOI":"10.3390\/cells9030540","volume":"9","author":"M Jaud","year":"2020","unstructured":"Jaud, M. et al. Translational regulations in response to endoplasmic reticulum stress in cancers. Cells 9, 540 (2020).","journal-title":"Cells"},{"key":"1184_CR194","doi-asserted-by":"publisher","first-page":"101518","DOI":"10.1016\/j.molmet.2022.101518","volume":"62","author":"N Willemsen","year":"2022","unstructured":"Willemsen, N., Arigoni, I., Studencka-Turski, M., Kruger, E. & Bartelt, A. Proteasome dysfunction disrupts adipogenesis and induces inflammation via ATF3. Mol. Metab. 62, 101518 (2022).","journal-title":"Mol. Metab."},{"key":"1184_CR195","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1006\/exmp.2000.2343","volume":"70","author":"F Bardag-Gorce","year":"2001","unstructured":"Bardag-Gorce, F. et al. Mallory bodies formed in proteasome-depleted hepatocytes: an immunohistochemical study. Exp. Mol. Pathol. 70, 7\u201318 (2001).","journal-title":"Exp. Mol. Pathol."},{"key":"1184_CR196","doi-asserted-by":"publisher","first-page":"eabo3189","DOI":"10.1126\/scitranslmed.abo3189","volume":"15","author":"F Ebstein","year":"2023","unstructured":"Ebstein, F. et al. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Sci. Transl. Med. 15, eabo3189 (2023).","journal-title":"Sci. Transl. Med."},{"key":"1184_CR197","doi-asserted-by":"publisher","first-page":"eadf2018","DOI":"10.1126\/science.adf2018","volume":"380","author":"C Sun","year":"2023","unstructured":"Sun, C. et al. An abundance of free regulatory (19S) proteasome particles regulates neuronal synapses. Science 380, eadf2018 (2023).","journal-title":"Science"},{"key":"1184_CR198","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1038\/s41386-018-0098-5","volume":"44","author":"JW Kim","year":"2019","unstructured":"Kim, J. W. et al. Pharmacological modulation of AMPA receptor rescues social impairments in animal models of autism. Neuropsychopharmacology 44, 314\u2013323 (2019).","journal-title":"Neuropsychopharmacology"},{"key":"1184_CR199","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1007\/s10875-023-01445-3","volume":"43","author":"G Zhu","year":"2023","unstructured":"Zhu, G. et al. Type I interferonopathy due to a homozygous loss-of-inhibitory function mutation in STAT2. J. Clin. Immunol. 43, 808\u2013818 (2023).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR200","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1056\/NEJMoa1905633","volume":"382","author":"F Alsohime","year":"2020","unstructured":"Alsohime, F. et al. JAK inhibitor therapy in a child with inherited USP18 deficiency. N. Engl. J. Med. 382, 256\u2013265 (2020).","journal-title":"N. Engl. J. Med."},{"key":"1184_CR201","doi-asserted-by":"publisher","first-page":"107633","DOI":"10.1016\/j.celrep.2020.107633","volume":"31","author":"M Martin-Fernandez","year":"2020","unstructured":"Martin-Fernandez, M. et al. Systemic Type I IFN inflammation in human ISG15 deficiency leads to necrotizing skin lesions. Cell Rep. 31, 107633 (2020).","journal-title":"Cell Rep."},{"key":"1184_CR202","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1126\/science.1224026","volume":"337","author":"D Bogunovic","year":"2012","unstructured":"Bogunovic, D. et al. Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science 337, 1684\u20131688 (2012).","journal-title":"Science"},{"key":"1184_CR203","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20211273","volume":"219","author":"M Martin-Fernandez","year":"2022","unstructured":"Martin-Fernandez, M. et al. A partial form of inherited human USP18 deficiency underlies infection and inflammation. J. Exp. Med. 219, e20211273 (2022).","journal-title":"J. Exp. Med."},{"key":"1184_CR204","doi-asserted-by":"publisher","first-page":"1878","DOI":"10.1016\/S0140-6736(14)60128-8","volume":"384","author":"L Lisnevskaia","year":"2014","unstructured":"Lisnevskaia, L., Murphy, G. & Isenberg, D. Systemic lupus erythematosus. Lancet 384, 1878\u20131888 (2014).","journal-title":"Lancet"},{"key":"1184_CR205","unstructured":"Justiz Vaillant, A. A., Goyal, A., Varacallo, M. Systemic Lupus Erythematosus (StatPearls, 2023)."},{"key":"1184_CR206","doi-asserted-by":"publisher","first-page":"e99","DOI":"10.1016\/S2665-9913(19)30142-0","volume":"2","author":"A Belot","year":"2020","unstructured":"Belot, A. et al. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. Lancet Rheumatol. 2, e99\u2013e109 (2020).","journal-title":"Lancet Rheumatol."},{"key":"1184_CR207","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1146\/annurev-immunol-101921-042422","volume":"41","author":"S Caielli","year":"2023","unstructured":"Caielli, S., Wan, Z. & Pascual, V. Systemic lupus erythematosus pathogenesis: interferon and beyond. Annu. Rev. Immunol. 41, 533\u2013560 (2023).","journal-title":"Annu. Rev. Immunol."},{"key":"1184_CR208","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/s41584-020-0480-7","volume":"16","author":"DS Pisetsky","year":"2020","unstructured":"Pisetsky, D. S. & Lipsky, P. E. New insights into the role of antinuclear antibodies in systemic lupus erythematosus. Nat. Rev. Rheumatol. 16, 565\u2013579 (2020).","journal-title":"Nat. Rev. Rheumatol."},{"key":"1184_CR209","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1038\/ng.975","volume":"43","author":"SM Al-Mayouf","year":"2011","unstructured":"Al-Mayouf, S. M. et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat. Genet. 43, 1186\u20131188 (2011).","journal-title":"Nat. Genet."},{"key":"1184_CR210","doi-asserted-by":"publisher","first-page":"e452","DOI":"10.1097\/MPH.0000000000001780","volume":"43","author":"A Pac Kisaarslan","year":"2021","unstructured":"Pac Kisaarslan, A. et al. Refractory and fatal presentation of severe autoimmune hemolytic anemia in a child with the DNASE1L3 mutation complicated with an additional DOCK8 variant. J. Pediatr. Hematol. Oncol. 43, e452\u2013e456 (2021).","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"1184_CR211","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1007\/s10875-022-01287-5","volume":"42","author":"M Tusseau","year":"2022","unstructured":"Tusseau, M. et al. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. J. Clin. Immunol. 42, 1310\u20131320 (2022).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR212","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1038\/91070","volume":"28","author":"K Yasutomo","year":"2001","unstructured":"Yasutomo, K. et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat. Genet. 28, 313\u2013314 (2001).","journal-title":"Nat. Genet."},{"key":"1184_CR213","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1073\/pnas.1718709115","volume":"115","author":"JOM Almitairi","year":"2018","unstructured":"Almitairi, J. O. M. et al. Structure of the C1r-C1s interaction of the C1 complex of complement activation. Proc. Natl Acad. Sci. USA 115, 768\u2013773 (2018).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR214","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1038\/ni.2670","volume":"14","author":"ZG Ramirez-Ortiz","year":"2013","unstructured":"Ramirez-Ortiz, Z. G. et al. The scavenger receptor SCARF1 mediates the clearance of apoptotic cells and prevents autoimmunity. Nat. Immunol. 14, 917\u2013926 (2013).","journal-title":"Nat. Immunol."},{"key":"1184_CR215","doi-asserted-by":"publisher","first-page":"544","DOI":"10.3389\/fimmu.2020.00544","volume":"11","author":"C Wicker-Planquart","year":"2020","unstructured":"Wicker-Planquart, C. et al. Molecular and cellular interactions of scavenger receptor SR-F1 with complement C1q provide insights into its role in the clearance of apoptotic cells. Front. Immunol. 11, 544 (2020).","journal-title":"Front. Immunol."},{"key":"1184_CR216","doi-asserted-by":"crossref","unstructured":"Santocki M, Kolaczkowska E. On neutrophil extracellular trap (NET) removal: what we know thus far and why so little. Cells 9, 2079 (2020).","DOI":"10.3390\/cells9092079"},{"key":"1184_CR217","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1016\/S1074-7613(00)80356-8","volume":"7","author":"LB Klickstein","year":"1997","unstructured":"Klickstein, L. B., Barbashov, S. F., Liu, T., Jack, R. M. & Nicholson-Weller, A. Complement receptor type 1 (CR1, CD35) is a receptor for C1q. Immunity 7, 345\u2013355 (1997).","journal-title":"Immunity"},{"key":"1184_CR218","unstructured":"Whaley, K., Ahmed, A. E. Control of immune complexes by the classical pathway. Behring Inst. Mitt. 111\u2013120 (1989)."},{"key":"1184_CR219","doi-asserted-by":"publisher","first-page":"902","DOI":"10.4049\/jimmunol.1102797","volume":"188","author":"DM Santer","year":"2012","unstructured":"Santer, D. M., Wiedeman, A. E., Teal, T. H., Ghosh, P. & Elkon, K. B. Plasmacytoid dendritic cells and C1q differentially regulate inflammatory gene induction by lupus immune complexes. J. Immunol. 188, 902\u2013915 (2012).","journal-title":"J. Immunol."},{"key":"1184_CR220","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1007\/s00011-014-0762-0","volume":"63","author":"W Spivia","year":"2014","unstructured":"Spivia, W., Magno, P. S., Le, P. & Fraser, D. A. Complement protein C1q promotes macrophage anti-inflammatory M2-like polarization during the clearance of atherogenic lipoproteins. Inflamm. Res. 63, 885\u2013893 (2014).","journal-title":"Inflamm. Res."},{"key":"1184_CR221","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1189\/jlb.1105683","volume":"80","author":"DA Fraser","year":"2006","unstructured":"Fraser, D. A. et al. C1q and MBL, components of the innate immune system, influence monocyte cytokine expression. J. Leukoc. Biol. 80, 107\u2013116 (2006).","journal-title":"J. Leukoc. Biol."},{"key":"1184_CR222","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/ng0598-56","volume":"19","author":"M Botto","year":"1998","unstructured":"Botto, M. et al. Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. Nat. Genet. 19, 56\u201359 (1998).","journal-title":"Nat. Genet."},{"key":"1184_CR223","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1111\/imr.12462","volume":"274","author":"M Martin","year":"2016","unstructured":"Martin, M. & Blom, A. M. Complement in removal of the dead \u2014 balancing inflammation. Immunol. Rev. 274, 218\u2013232 (2016).","journal-title":"Immunol. Rev."},{"key":"1184_CR224","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.cell.2016.05.034","volume":"166","author":"V Sisirak","year":"2016","unstructured":"Sisirak, V. et al. Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity. Cell 166, 88\u2013101 (2016).","journal-title":"Cell"},{"key":"1184_CR225","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1073\/pnas.1815031116","volume":"116","author":"L Serpas","year":"2019","unstructured":"Serpas, L. et al. Dnase1l3 deletion causes aberrations in length and end-motif frequencies in plasma DNA. Proc. Natl Acad. Sci. USA 116, 641\u2013649 (2019).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR226","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1016\/j.immuni.2020.04.015","volume":"52","author":"C Soni","year":"2020","unstructured":"Soni, C. et al. Plasmacytoid dendritic cells and type I interferon promote extrafollicular B cell responses to extracellular self-DNA. Immunity 52, 1022\u20131038.e7 (2020).","journal-title":"Immunity"},{"key":"1184_CR227","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1172\/JCI200421075","volume":"114","author":"LA Trouw","year":"2004","unstructured":"Trouw, L. A. et al. Anti-C1q autoantibodies deposit in glomeruli but are only pathogenic in combination with glomerular C1q-containing immune complexes. J. Clin. Invest. 114, 679\u2013688 (2004).","journal-title":"J. Clin. Invest."},{"key":"1184_CR228","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1177\/0961203316645205","volume":"25","author":"G Stojan","year":"2016","unstructured":"Stojan, G. & Petri, M. Anti-C1q in systemic lupus erythematosus. Lupus 25, 873\u2013877 (2016).","journal-title":"Lupus"},{"key":"1184_CR229","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201138","volume":"218","author":"J Hartl","year":"2021","unstructured":"Hartl, J. et al. Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus. J. Exp. Med. 218, e20201138 (2021).","journal-title":"J. Exp. Med."},{"key":"1184_CR230","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1046\/j.1365-2249.1999.00867.x","volume":"116","author":"CE Siegert","year":"1999","unstructured":"Siegert, C. E. et al. Autoantibodies against C1q: view on clinical relevance and pathogenic role. Clin. Exp. Immunol. 116, 4\u20138 (1999).","journal-title":"Clin. Exp. Immunol."},{"key":"1184_CR231","doi-asserted-by":"publisher","DOI":"10.1002\/cti2.1279","volume":"10","author":"M Trendelenburg","year":"2021","unstructured":"Trendelenburg, M. Autoantibodies against complement component C1q in systemic lupus erythematosus. Clin. Transl. Immunol. 10, e1279 (2021).","journal-title":"Clin. Transl. Immunol."},{"key":"1184_CR232","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-37083-x","volume":"14","author":"E Gomez-Banuelos","year":"2023","unstructured":"Gomez-Banuelos, E. et al. Affinity maturation generates pathogenic antibodies with dual reactivity to DNase1L3 and dsDNA in systemic lupus erythematosus. Nat. Commun. 14, 1388 (2023).","journal-title":"Nat. Commun."},{"key":"1184_CR233","doi-asserted-by":"crossref","unstructured":"Wolf, C. et al. UNC93B1 variants underlie TLR7-dependent autoimmunity. Sci. Immunol. 9, eadi9769 (2024).","DOI":"10.1126\/sciimmunol.adi9769"},{"key":"1184_CR234","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1002\/art.42416","volume":"75","author":"C Xie","year":"2023","unstructured":"Xie, C. et al. De novo PACSIN1 gene variant found in childhood lupus and a role for PACSIN1\/TRAF4 complex in toll-like receptor 7 activation. Arthritis Rheumatol. 75, 1058\u20131071 (2023).","journal-title":"Arthritis Rheumatol."},{"key":"1184_CR235","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/nature06726","volume":"452","author":"YM Kim","year":"2008","unstructured":"Kim, Y. M., Brinkmann, M. M., Paquet, M. E. & Ploegh, H. L. UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes. Nature 452, 234\u2013238 (2008).","journal-title":"Nature"},{"key":"1184_CR236","doi-asserted-by":"publisher","first-page":"2900","DOI":"10.1128\/JVI.05738-11","volume":"86","author":"S Jensen","year":"2012","unstructured":"Jensen, S. & Thomsen, A. R. Sensing of RNA viruses: a review of innate immune receptors involved in recognizing RNA virus invasion. J. Virol. 86, 2900\u20132910 (2012).","journal-title":"J. Virol."},{"key":"1184_CR237","doi-asserted-by":"publisher","first-page":"eadi9575","DOI":"10.1126\/sciimmunol.adi9575","volume":"9","author":"H Mishra","year":"2024","unstructured":"Mishra, H. et al. Disrupted degradative sorting of TLR7 is associated with human lupus. Sci. Immunol. 9, eadi9575 (2024).","journal-title":"Sci. Immunol."},{"key":"1184_CR238","doi-asserted-by":"publisher","first-page":"969","DOI":"10.1038\/s41590-024-01846-5","volume":"25","author":"M Al-Azab","year":"2024","unstructured":"Al-Azab, M. et al. Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus. Nat. Immunol. 25, 969\u2013980 (2024).","journal-title":"Nat. Immunol."},{"key":"1184_CR239","doi-asserted-by":"crossref","unstructured":"David, C. et al. Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus. J. Exp. Med. 221, e20232066 (2024).","DOI":"10.1084\/jem.20232066"},{"key":"1184_CR240","unstructured":"Rael, V. E. et al. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J. Exp. Med. 221, e20232005 (2024)."},{"key":"1184_CR241","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1126\/science.1124978","volume":"312","author":"P Pisitkun","year":"2006","unstructured":"Pisitkun, P. et al. Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication. Science 312, 1669\u20131672 (2006).","journal-title":"Science"},{"key":"1184_CR242","doi-asserted-by":"publisher","first-page":"9970","DOI":"10.1073\/pnas.0603912103","volume":"103","author":"S Subramanian","year":"2006","unstructured":"Subramanian, S. et al. A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc. Natl Acad. Sci. USA 103, 9970\u20139975 (2006).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR243","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.exphem.2021.02.001","volume":"96","author":"S Li","year":"2021","unstructured":"Li, S., Yao, J. C., Li, J. T., Schmidt, A. P. & Link, D. C. TLR7\/8 agonist treatment induces an increase in bone marrow resident dendritic cells and hematopoietic progenitor expansion and mobilization. Exp. Hematol. 96, 35\u201343.e7 (2021).","journal-title":"Exp. Hematol."},{"key":"1184_CR244","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1084\/jem.20161512","volume":"214","author":"C Lood","year":"2017","unstructured":"Lood, C., Arve, S., Ledbetter, J. & Elkon, K. B. TLR7\/8 activation in neutrophils impairs immune complex phagocytosis through shedding of FcgRIIA. J. Exp. Med. 214, 2103\u20132119 (2017).","journal-title":"J. Exp. Med."},{"key":"1184_CR245","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1002\/art.38008","volume":"65","author":"A Belot","year":"2013","unstructured":"Belot, A. et al. Protein kinase c\u03b4 deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 65, 2161\u20132171 (2013).","journal-title":"Arthritis Rheum."},{"key":"1184_CR246","doi-asserted-by":"crossref","unstructured":"He, Y. et al. P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance. J. Exp. Med. 219, e20211004 (2022).","DOI":"10.1084\/jem.20211004"},{"key":"1184_CR247","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1038\/416865a","volume":"416","author":"A Miyamoto","year":"2002","unstructured":"Miyamoto, A. et al. Increased proliferation of B cells and auto-immunity in mice lacking protein kinase C\u03b4. Nature 416, 865\u2013869 (2002).","journal-title":"Nature"},{"key":"1184_CR248","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1038\/s41590-020-0743-0","volume":"21","author":"D Nehar-Belaid","year":"2020","unstructured":"Nehar-Belaid, D. et al. Mapping systemic lupus erythematosus heterogeneity at the single-cell level. Nat. Immunol. 21, 1094\u20131106 (2020).","journal-title":"Nat. Immunol."},{"key":"1184_CR249","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.1126\/science.1064890","volume":"294","author":"P Blanco","year":"2001","unstructured":"Blanco, P., Palucka, A. K., Gill, M., Pascual, V. & Banchereau, J. Induction of dendritic cell differentiation by IFN-\u03b1 in systemic lupus erythematosus. Science 294, 1540\u20131543 (2001).","journal-title":"Science"},{"key":"1184_CR250","doi-asserted-by":"publisher","first-page":"2276","DOI":"10.4049\/jimmunol.1800159","volume":"203","author":"B Lazzaretto","year":"2019","unstructured":"Lazzaretto, B. & Fadeel, B. Intra- and extracellular degradation of neutrophil extracellular traps by macrophages and dendritic cells. J. Immunol. 203, 2276\u20132290 (2019).","journal-title":"J. Immunol."},{"key":"1184_CR251","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-40900-3","volume":"9","author":"Y Becker","year":"2019","unstructured":"Becker, Y. et al. Anti-mitochondrial autoantibodies in systemic lupus erythematosus and their association with disease manifestations. Sci. Rep. 9, 4530 (2019).","journal-title":"Sci. Rep."},{"key":"1184_CR252","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1038\/nm.4027","volume":"22","author":"C Lood","year":"2016","unstructured":"Lood, C. et al. Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease. Nat. Med. 22, 146\u2013153 (2016).","journal-title":"Nat. Med."},{"key":"1184_CR253","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1084\/jem.20151876","volume":"213","author":"S Caielli","year":"2016","unstructured":"Caielli, S. et al. Oxidized mitochondrial nucleoids released by neutrophils drive type I interferon production in human lupus. J. Exp. Med. 213, 697\u2013713 (2016).","journal-title":"J. Exp. Med."},{"key":"1184_CR254","doi-asserted-by":"publisher","first-page":"73ra20","DOI":"10.1126\/scitranslmed.3001201","volume":"3","author":"GS Garcia-Romo","year":"2011","unstructured":"Garcia-Romo, G. S. et al. Netting neutrophils are major inducers of type I IFN production in pediatric systemic lupus erythematosus. Sci. Transl. Med. 3, 73ra20 (2011).","journal-title":"Sci. Transl. Med."},{"key":"1184_CR255","doi-asserted-by":"publisher","first-page":"4464","DOI":"10.1016\/j.cell.2021.07.021","volume":"184","author":"S Caielli","year":"2021","unstructured":"Caielli, S. et al. Erythroid mitochondrial retention triggers myeloid-dependent type I interferon in human SLE. Cell 184, 4464\u20134479.e19 (2021).","journal-title":"Cell"},{"key":"1184_CR256","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1146\/annurev-biochem-032620-104401","volume":"92","author":"LE Newman","year":"2023","unstructured":"Newman, L. E. & Shadel, G. S. Mitochondrial DNA release in innate immune signaling. Annu. Rev. Biochem. 92, 299\u2013332 (2023).","journal-title":"Annu. Rev. Biochem."},{"key":"1184_CR257","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1038\/s41586-023-05720-6","volume":"615","author":"A Hooftman","year":"2023","unstructured":"Hooftman, A. et al. Macrophage fumarate hydratase restrains mtRNA-mediated interferon production. Nature 615, 490\u2013498 (2023).","journal-title":"Nature"},{"key":"1184_CR258","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1038\/s41586-023-05770-w","volume":"615","author":"V Zecchini","year":"2023","unstructured":"Zecchini, V. et al. Fumarate induces vesicular release of mtDNA to drive innate immunity. Nature 615, 499\u2013506 (2023).","journal-title":"Nature"},{"key":"1184_CR259","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1038\/ng.748","volume":"43","author":"TA Briggs","year":"2011","unstructured":"Briggs, T. A. et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat. Genet. 43, 127\u2013131 (2011).","journal-title":"Nat. Genet."},{"key":"1184_CR260","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6853","volume":"6","author":"MP Chan","year":"2015","unstructured":"Chan, M. P. et al. DNase II-dependent DNA digestion is required for DNA sensing by TLR9. Nat. Commun. 6, 5853 (2015).","journal-title":"Nat. Commun."},{"key":"1184_CR261","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/j.jaci.2019.11.020","volume":"145","author":"Y Hong","year":"2020","unstructured":"Hong, Y. et al. Janus kinase inhibition for autoinflammation in patients with DNASE2 deficiency. J. Allergy Clin. Immunol. 145, 701\u2013705.e8 (2020).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR262","doi-asserted-by":"publisher","first-page":"2599","DOI":"10.1111\/1756-185X.14826","volume":"26","author":"S Basu","year":"2023","unstructured":"Basu, S. et al. A young boy with rash, arthritis, and developmental delay: monogenic lupus due to DNASE2 gene defect. Int. J. Rheum. Dis. 26, 2599\u20132602 (2023).","journal-title":"Int. J. Rheum. Dis."},{"key":"1184_CR263","doi-asserted-by":"publisher","first-page":"2016","DOI":"10.1016\/j.jaci.2016.12.957","volume":"139","author":"KL Del Bel","year":"2017","unstructured":"Del Bel, K. L. et al. JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. J. Allergy Clin. Immunol. 139, 2016\u20132020.e5 (2017).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR264","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1016\/j.immuni.2020.07.006","volume":"53","author":"CN Gruber","year":"2020","unstructured":"Gruber, C. N. et al. Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function. Immunity 53, 672\u2013684.e11 (2020).","journal-title":"Immunity"},{"key":"1184_CR265","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1016\/j.jaci.2012.11.054","volume":"131","author":"G Uzel","year":"2013","unstructured":"Uzel, G. et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J. Allergy Clin. Immunol. 131, 1611\u20131623 (2013).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR266","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1016\/j.jaci.2020.07.033","volume":"146","author":"PY Lee","year":"2020","unstructured":"Lee, P. Y. et al. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J. Allergy Clin. Immunol. 146, 1194\u20131200.e1 (2020).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR267","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/s41392-023-01468-7","volume":"8","author":"C Xue","year":"2023","unstructured":"Xue, C. et al. Evolving cognition of the JAK-STAT signaling pathway: autoimmune disorders and cancer. Signal. Transduct. Target. Ther. 8, 204 (2023).","journal-title":"Signal. Transduct. Target. Ther."},{"key":"1184_CR268","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/j.jaci.2023.04.014","volume":"152","author":"L Chen","year":"2023","unstructured":"Chen, L. et al. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2. J. Allergy Clin. Immunol. 152, 771\u2013782 (2023).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR269","doi-asserted-by":"publisher","first-page":"eaba3688","DOI":"10.1126\/sciadv.aba3688","volume":"6","author":"R Dhanwani","year":"2020","unstructured":"Dhanwani, R. et al. Cellular sensing of extracellular purine nucleosides triggers an innate IFN-\u03b2 response. Sci. Adv. 6, eaba3688 (2020).","journal-title":"Sci. Adv."},{"key":"1184_CR270","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1038\/s41586-023-05736-y","volume":"615","author":"L Malle","year":"2023","unstructured":"Malle, L. et al. Autoimmunity in Down\u2019s syndrome via cytokines, CD4 T cells and CD11c+ B cells. Nature 615, 305\u2013314 (2023).","journal-title":"Nature"},{"key":"1184_CR271","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1101\/gad.16872411","volume":"25","author":"M Malewicz","year":"2011","unstructured":"Malewicz, M. et al. Essential role for DNA-PK-mediated phosphorylation of NR4A nuclear orphan receptors in DNA double-strand break repair. Genes. Dev. 25, 2031\u20132040 (2011).","journal-title":"Genes. Dev."},{"key":"1184_CR272","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.jaci.2017.10.030","volume":"142","author":"E Gul","year":"2018","unstructured":"Gul, E. et al. Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. J. Allergy Clin. Immunol. 142, 246\u2013257 (2018).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR273","doi-asserted-by":"publisher","first-page":"715723","DOI":"10.3389\/fimmu.2021.715723","volume":"12","author":"B Klein","year":"2021","unstructured":"Klein, B. & Gunther, C. Type I interferon induction in cutaneous DNA damage syndromes. Front. Immunol. 12, 715723 (2021).","journal-title":"Front. Immunol."},{"key":"1184_CR274","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/ni.3409","volume":"17","author":"P Starokadomskyy","year":"2016","unstructured":"Starokadomskyy, P. et al. DNA polymerase-\u03b1 regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat. Immunol. 17, 495\u2013504 (2016).","journal-title":"Nat. Immunol."},{"key":"1184_CR275","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1038\/ni.3420","volume":"17","author":"I Meyts","year":"2016","unstructured":"Meyts, I. & Casanova, J. L. A human inborn error connects the alpha\u2019s. Nat. Immunol. 17, 472\u2013474 (2016).","journal-title":"Nat. Immunol."},{"key":"1184_CR276","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1016\/j.jid.2020.10.019","volume":"141","author":"M Hussain","year":"2021","unstructured":"Hussain, M. et al. Skin abnormalities in disorders with DNA repair defects, premature aging, and mitochondrial dysfunction. J. Invest. Dermatol. 141, 968\u2013975 (2021).","journal-title":"J. Invest. Dermatol."},{"key":"1184_CR277","doi-asserted-by":"publisher","first-page":"13216","DOI":"10.3390\/ijms232113216","volume":"23","author":"P Lopriore","year":"2022","unstructured":"Lopriore, P., Gomes, F., Montano, V., Siciliano, G. & Mancuso, M. Mitochondrial epilepsy, a challenge for neurologists. Int. J. Mol. Sci. 23, 13216 (2022).","journal-title":"Int. J. Mol. Sci."},{"key":"1184_CR278","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201560","volume":"218","author":"A Lepelley","year":"2021","unstructured":"Lepelley, A. et al. Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. J. Exp. Med. 218, e20201560 (2021).","journal-title":"J. Exp. Med."},{"key":"1184_CR279","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/s41577-021-00633-9","volume":"22","author":"YJ Crow","year":"2022","unstructured":"Crow, Y. J. & Stetson, D. B. The type I interferonopathies: 10 years on. Nat. Rev. Immunol. 22, 471\u2013483 (2022).","journal-title":"Nat. Rev. Immunol."},{"key":"1184_CR280","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1111\/imr.12821","volume":"292","author":"E Meffre","year":"2019","unstructured":"Meffre, E., & O\u2019Connor, K. C. Impaired B-cell tolerance checkpoints promote the development of autoimmune diseases and pathogenic autoantibodies. Immunol. Rev. 292, 90\u2013101 (2019).","journal-title":"Immunol. Rev."},{"key":"1184_CR281","doi-asserted-by":"publisher","first-page":"1873","DOI":"10.1056\/NEJMoa2312665","volume":"390","author":"V Oikonomou","year":"2024","unstructured":"Oikonomou, V. et al. The role of interferon-\u03b3 in autoimmune polyendocrine syndrome type 1. N. Engl. J. Med. 390, 1873\u20131884 (2024).","journal-title":"N. Engl. J. Med."},{"key":"1184_CR282","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/s41927-023-00349-4","volume":"7","author":"JT Zanussi","year":"2023","unstructured":"Zanussi, J. T. et al. Clinical diagnoses associated with a positive antinuclear antibody test in patients with and without autoimmune disease. BMC Rheumatol. 7, 24 (2023).","journal-title":"BMC Rheumatol."},{"key":"1184_CR283","doi-asserted-by":"publisher","first-page":"102943","DOI":"10.1016\/j.autrev.2021.102943","volume":"20","author":"ME Orme","year":"2021","unstructured":"Orme, M. E., Voreck, A., Aksouh, R., Ramsey-Goldman, R. & Schreurs, M. W. J. Systematic review of anti-dsDNA testing for systemic lupus erythematosus: a meta-analysis of the diagnostic test specificity of an anti-dsDNA fluorescence enzyme immunoassay. Autoimmun. Rev. 20, 102943 (2021).","journal-title":"Autoimmun. Rev."},{"key":"1184_CR284","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-16681-y","volume":"7","author":"S Sakakibara","year":"2017","unstructured":"Sakakibara, S. et al. Clonal evolution and antigen recognition of anti-nuclear antibodies in acute systemic lupus erythematosus. Sci. Rep. 7, 16428 (2017).","journal-title":"Sci. Rep."},{"key":"1184_CR285","volume":"14","author":"JC Santacruz","year":"2022","unstructured":"Santacruz, J. C. et al. A practical perspective of the hematologic manifestations of systemic lupus erythematosus. Cureus 14, e22938 (2022).","journal-title":"Cureus"},{"key":"1184_CR286","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1146\/annurev-pathmechdis-051222-122724","volume":"19","author":"R Kanagal-Shamanna","year":"2024","unstructured":"Kanagal-Shamanna, R., Beck, D. B. & Calvo, K. R. Clonal hematopoiesis, inflammation, and hematologic malignancy. Annu. Rev. Pathol. 19, 479\u2013506 (2024).","journal-title":"Annu. Rev. Pathol."},{"key":"1184_CR287","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1172\/JCI110159","volume":"67","author":"GR Gallo","year":"1981","unstructured":"Gallo, G. R., Caulin-Glaser, T. & Lamm, M. E. Charge of circulating immune complexes as a factor in glomerular basement membrane localization in mice. J. Clin. Invest. 67, 1305\u20131313 (1981).","journal-title":"J. Clin. Invest."},{"key":"1184_CR288","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1111\/j.1365-2249.2006.03102.x","volume":"145","author":"H Du","year":"2006","unstructured":"Du, H., Chen, M., Zhang, Y., Zhao, M. H. & Wang, H. Y. Cross-reaction of anti-DNA autoantibodies with membrane proteins of human glomerular mesangial cells in sera from patients with lupus nephritis. Clin. Exp. Immunol. 145, 21\u201327 (2006).","journal-title":"Clin. Exp. Immunol."},{"key":"1184_CR289","doi-asserted-by":"publisher","first-page":"295","DOI":"10.3109\/08830189009056736","volume":"5","author":"E Paul","year":"1990","unstructured":"Paul, E. et al. Pathogenic anti-DNA antibodies in SLE: idiotypic families and genetic origins. Int. Rev. Immunol. 5, 295\u2013313 (1990).","journal-title":"Int. Rev. Immunol."},{"key":"1184_CR290","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1038\/ki.1991.91","volume":"39","author":"T Sasaki","year":"1991","unstructured":"Sasaki, T. et al. Heterogeneity of immune complex-derived anti-DNA antibodies associated with lupus nephritis. Kidney Int. 39, 746\u2013753 (1991).","journal-title":"Kidney Int."},{"key":"1184_CR291","doi-asserted-by":"publisher","first-page":"5760","DOI":"10.4049\/jimmunol.155.12.5760","volume":"155","author":"KA Davies","year":"1995","unstructured":"Davies, K. A. et al. Clearance pathways of soluble immune complexes in the pig. Insights into the adaptive nature of antigen clearance in humans. J. Immunol. 155, 5760\u20135768 (1995).","journal-title":"J. Immunol."},{"key":"1184_CR292","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S1074-7613(02)00275-3","volume":"16","author":"H Ji","year":"2002","unstructured":"Ji, H. et al. Arthritis critically dependent on innate immune system players. Immunity 16, 157\u2013168 (2002).","journal-title":"Immunity"},{"key":"1184_CR293","doi-asserted-by":"publisher","first-page":"3072","DOI":"10.4049\/jimmunol.168.6.3072","volume":"168","author":"B Deocharan","year":"2002","unstructured":"Deocharan, B., Qing, X., Lichauco, J. & Putterman, C. \u03b1-Actinin is a cross-reactive renal target for pathogenic anti-DNA antibodies. J. Immunol. 168, 3072\u20133078 (2002).","journal-title":"J. Immunol."},{"key":"1184_CR294","doi-asserted-by":"crossref","unstructured":"The American College of Rheumatology nomenclature and case definitions for neuropsychiatric lupus syndromes. Arthritis Rheum. 42, 599\u2013608 (1999).","DOI":"10.1002\/1529-0131(199904)42:4<599::AID-ANR2>3.0.CO;2-F"},{"key":"1184_CR295","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1038\/nm1101-1189","volume":"7","author":"LA DeGiorgio","year":"2001","unstructured":"DeGiorgio, L. A. et al. A subset of lupus anti-DNA antibodies cross-reacts with the NR2 glutamate receptor in systemic lupus erythematosus. Nat. Med. 7, 1189\u20131193 (2001).","journal-title":"Nat. Med."},{"key":"1184_CR296","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-75500-z","volume":"10","author":"M Molero-Luis","year":"2020","unstructured":"Molero-Luis, M. et al. Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases. Sci. Rep. 10, 18291 (2020).","journal-title":"Sci. Rep."},{"key":"1184_CR297","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/icb.1990.4","volume":"68","author":"EK Choi","year":"1990","unstructured":"Choi, E. K., Gatenby, P. A., Bateman, J. F. & Cole, W. G. Antibodies to type II collagen in SLE: a role in the pathogenesis of deforming arthritis? Immunol. Cell Biol. 68, 27\u201331 (1990).","journal-title":"Immunol. Cell Biol."},{"key":"1184_CR298","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1177\/09612033221082908","volume":"31","author":"MB Santiago","year":"2022","unstructured":"Santiago, M. B. Jaccoud-type lupus arthropathy. Lupus 31, 398\u2013406 (2022).","journal-title":"Lupus"},{"key":"1184_CR299","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1007\/s00109-016-1465-5","volume":"94","author":"H Kim","year":"2016","unstructured":"Kim, H., Sanchez, G. A. & Goldbach-Mansky, R. Insights from mendelian interferonopathies: comparison of CANDLE, SAVI with AGS, monogenic lupus. J. Mol. Med. 94, 1111\u20131127 (2016).","journal-title":"J. Mol. Med."},{"key":"1184_CR300","doi-asserted-by":"crossref","unstructured":"Northcott, M. et al. Type 1 interferon status in systemic lupus erythematosus: a longitudinal analysis. Lupus Sci. Med. 9, e000625 (2022).","DOI":"10.1136\/lupus-2021-000625"},{"key":"1184_CR301","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1084\/jem.20161451","volume":"214","author":"MP Rodero","year":"2017","unstructured":"Rodero, M. P. et al. Detection of interferon alpha protein reveals differential levels and cellular sources in disease. J. Exp. Med. 214, 1547\u20131555 (2017).","journal-title":"J. Exp. Med."},{"key":"1184_CR302","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1056\/NEJMc2001362","volume":"383","author":"A Vanderver","year":"2020","unstructured":"Vanderver, A. et al. Janus kinase inhibition in the Aicardi-Goutieres syndrome. N. Engl. J. Med. 383, 986\u2013989 (2020).","journal-title":"N. Engl. J. Med."},{"key":"1184_CR303","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","volume":"12","author":"GI Rice","year":"2013","unstructured":"Rice, G. I. et al. 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\u20131169 (2013).","journal-title":"Lancet Neurol."},{"key":"1184_CR304","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1007\/s10875-016-0359-1","volume":"37","author":"GI Rice","year":"2017","unstructured":"Rice, G. I. et al. Assessment of type I interferon signaling in pediatric inflammatory disease. J. Clin. Immunol. 37, 123\u2013132 (2017).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR305","doi-asserted-by":"publisher","first-page":"2156","DOI":"10.1093\/rheumatology\/keab688","volume":"61","author":"E Huijser","year":"2022","unstructured":"Huijser, E. et al. Serum interferon-\u03b12 measured by single-molecule array associates with systemic disease manifestations in Sjogren\u2019s syndrome. Rheumatology 61, 2156\u20132166 (2022).","journal-title":"Rheumatology"},{"key":"1184_CR306","doi-asserted-by":"publisher","first-page":"2610","DOI":"10.1073\/pnas.0337679100","volume":"100","author":"EC Baechler","year":"2003","unstructured":"Baechler, E. C. et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc. Natl Acad. Sci. USA 100, 2610\u20132615 (2003).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"1184_CR307","doi-asserted-by":"crossref","unstructured":"Bennett, L. et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J. Exp. Med. 197, 711\u2013723 (2003).","DOI":"10.1084\/jem.20021553"},{"key":"1184_CR308","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1089\/jir.2017.0127","volume":"38","author":"H Kim","year":"2018","unstructured":"Kim, H. et al. Development of a validated interferon score using nanostring technology. J. Interferon Cytokine Res. 38, 171\u2013185 (2018).","journal-title":"J. Interferon Cytokine Res."},{"key":"1184_CR309","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1172\/JCI129301","volume":"130","author":"AA de Jesus","year":"2020","unstructured":"de Jesus, A. A. et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J. Clin. Invest. 130, 1669\u20131682 (2020).","journal-title":"J. Clin. Invest."},{"key":"1184_CR310","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1126\/science.abc6027","volume":"369","author":"J Hadjadj","year":"2020","unstructured":"Hadjadj, J. et al. Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients. Science 369, 718\u2013724 (2020).","journal-title":"Science"},{"key":"1184_CR311","doi-asserted-by":"publisher","first-page":"1110593","DOI":"10.3389\/fimmu.2023.1110593","volume":"14","author":"B Viengkhou","year":"2023","unstructured":"Viengkhou, B. & Hofer, M. J. Breaking down the cellular responses to type I interferon neurotoxicity in the brain. Front. Immunol. 14, 1110593 (2023).","journal-title":"Front. Immunol."},{"key":"1184_CR312","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1038\/s41392-023-01486-5","volume":"8","author":"W Zhang","year":"2023","unstructured":"Zhang, W., Xiao, D., Mao, Q. & Xia, H. Role of neuroinflammation in neurodegeneration development. Signal. Transduct. Target. Ther. 8, 267 (2023).","journal-title":"Signal. Transduct. Target. Ther."},{"key":"1184_CR313","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1136\/annrheumdis-2021-221814","volume":"81","author":"K Cetin Gedik","year":"2022","unstructured":"Cetin Gedik, K. et al. The 2021 European Alliance of Associations for Rheumatology\/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE\/PRAAS, SAVI and AGS. Ann. Rheum. Dis. 81, 601\u2013613 (2022).","journal-title":"Ann. Rheum. Dis."},{"key":"1184_CR314","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1002\/art.40805","volume":"71","author":"K Meesilpavikkai","year":"2019","unstructured":"Meesilpavikkai, K. et al. Efficacy of baricitinib in the treatment of chilblains associated with Aicardi-Goutieres syndrome, a type I interferonopathy. Arthritis Rheumatol. 71, 829\u2013831 (2019).","journal-title":"Arthritis Rheumatol."},{"key":"1184_CR315","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1001\/jamadermatol.2018.5077","volume":"155","author":"N Zimmermann","year":"2019","unstructured":"Zimmermann, N. et al. Assessment of clinical response to Janus kinase inhibition in patients with familial chilblain lupus and TREX1 mutation. JAMA Dermatol. 155, 342\u2013346 (2019).","journal-title":"JAMA Dermatol."},{"key":"1184_CR316","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s12969-019-0322-9","volume":"17","author":"M Boyadzhiev","year":"2019","unstructured":"Boyadzhiev, M. et al. Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome. Pediatr. Rheumatol. Online J. 17, 19 (2019).","journal-title":"Pediatr. Rheumatol. Online J."},{"key":"1184_CR317","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1111\/pde.14517","volume":"38","author":"PN Patel","year":"2021","unstructured":"Patel, P. N. et al. Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib. Pediatr. Dermatol. 38, 528\u2013529 (2021).","journal-title":"Pediatr. Dermatol."},{"key":"1184_CR318","doi-asserted-by":"publisher","first-page":"2275","DOI":"10.1056\/NEJMc1810983","volume":"379","author":"GI Rice","year":"2018","unstructured":"Rice, G. I. et al. Reverse-transcriptase inhibitors in the Aicardi-Goutieres syndrome. N. Engl. J. Med. 379, 2275\u20132277 (2018).","journal-title":"N. Engl. J. Med."},{"key":"1184_CR319","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1002\/humu.22939","volume":"37","author":"SA Gatz","year":"2016","unstructured":"Gatz, S. A. et al. MCM3AP and POMP mutations cause a DNA-repair and DNA-damage-signaling defect in an immunodeficient child. Hum. Mutat. 37, 257\u2013268 (2016).","journal-title":"Hum. Mutat."},{"key":"1184_CR320","doi-asserted-by":"publisher","first-page":"1664","DOI":"10.1007\/s10875-021-01067-7","volume":"41","author":"A Meinhardt","year":"2021","unstructured":"Meinhardt, A. et al. Curative treatment of POMP-related autoinflammation and immune dysregulation (PRAID) by hematopoietic stem cell transplantation. J. Clin. Immunol. 41, 1664\u20131667 (2021).","journal-title":"J. Clin. Immunol."},{"key":"1184_CR321","doi-asserted-by":"publisher","first-page":"1896","DOI":"10.1182\/blood.2021011005","volume":"138","author":"C Martinez","year":"2021","unstructured":"Martinez, C. et al. HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease. Blood 138, 1896\u20131901 (2021).","journal-title":"Blood"},{"key":"1184_CR322","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1016\/j.jaci.2021.07.039","volume":"149","author":"D Verhoeven","year":"2022","unstructured":"Verhoeven, D. et al. Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS). J. Allergy Clin. Immunol. 149, 1120\u20131127 e8 (2022).","journal-title":"J. Allergy Clin. Immunol."},{"key":"1184_CR323","doi-asserted-by":"publisher","DOI":"10.1136\/lupus-2018-000261","volume":"5","author":"JM Riggs","year":"2018","unstructured":"Riggs, J. M. et al. Characterisation of anifrolumab, a fully human anti-interferon receptor antagonist antibody for the treatment of systemic lupus erythematosus. Lupus Sci. Med. 5, e000261 (2018).","journal-title":"Lupus Sci. Med."},{"key":"1184_CR324","doi-asserted-by":"publisher","first-page":"109593","DOI":"10.1016\/j.clim.2023.109593","volume":"250","author":"A Doroudchi","year":"2023","unstructured":"Doroudchi, A. & Butte, M. First reported use of anifrolumab to treat a monogenic interferonopathy (DNASE2 loss of function). Clin. Immunol. 250, 109593 (2023).","journal-title":"Clin. Immunol."},{"key":"1184_CR325","doi-asserted-by":"crossref","unstructured":"Mansilla-Polo, M. et al. Successful treatment of stimulator of interferon genes-associated vasculopathy of infantile onset SAVI syndrome with anifrolumab. JAMA Dermatol. 160, 899\u2013901 (2024).","DOI":"10.1001\/jamadermatol.2024.2160"},{"key":"1184_CR326","unstructured":"Alehashemi, S. B. A. et al. Anifrolumab normalizes the type I interferon signature in a cohort of patients with type I interferonopathies [abstract]. Arthritis Rheumatol. 75 (suppl. 9), abstract number 2477 (2023)."},{"key":"1184_CR327","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1038\/s41586-023-06933-5","volume":"626","author":"A Thawani","year":"2024","unstructured":"Thawani, A. et al. Template and target-site recognition by human LINE-1 in retrotransposition. Nature 626, 186\u2013193 (2024).","journal-title":"Nature"}],"container-title":["Nature Reviews Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41584-024-01184-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41584-024-01184-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41584-024-01184-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T14:03:21Z","timestamp":1734703401000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41584-024-01184-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,2]]},"references-count":327,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["1184"],"URL":"https:\/\/doi.org\/10.1038\/s41584-024-01184-8","relation":{},"ISSN":["1759-4790","1759-4804"],"issn-type":[{"value":"1759-4790","type":"print"},{"value":"1759-4804","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,2]]},"assertion":[{"value":"17 October 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 December 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"R.G.M. has a government funded Cooperative Research and Development Agreement that supports translational research with STING inhibitors. S.A. and A.A.D.J. have no relevant competing interests to report.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}