{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T15:45:01Z","timestamp":1790783101458,"version":"4.1.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2017,8,26]],"date-time":"2017-08-26T00:00:00Z","timestamp":1503705600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Rheumatol Rep"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1007\/s11926-017-0689-x","type":"journal-article","created":{"date-parts":[[2017,8,26]],"date-time":"2017-08-26T06:40:18Z","timestamp":1503729618000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?"],"prefix":"10.1007","volume":"19","author":[{"given":"Christoph","family":"Fiehn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,8,26]]},"reference":[{"key":"689_CR1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1749-6632.2011.06220.x","volume":"1238","author":"YJ Crow","year":"2011","unstructured":"Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y AcadSci. 2011;1238:91\u20138.","journal-title":"Ann N Y AcadSci"},{"key":"689_CR2","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1084\/jem.20161596","volume":"213","author":"MP Rodero","year":"2016","unstructured":"Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview. J Exp Med. 2016;213:2527\u201338.","journal-title":"J Exp Med"},{"key":"689_CR3","doi-asserted-by":"crossref","unstructured":"\u2022 Lee-Kirsch MA, Wolf C, Kretschmer S, et al. Type I interferonopathies: an expanding disease spectrum of immunodysregulation. Semin Immunopathol. 2015;37:349\u201357. A comprehensive overview of the type I interferonopathies with a focus on its genetic mechanisms.","DOI":"10.1007\/s00281-015-0500-x"},{"key":"689_CR4","doi-asserted-by":"crossref","unstructured":"\u2022\u2022 K\u00f6nig N, Fiehn C, Wolf C, et al. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2016;76(2):468\u201372. The most recent description of a family with familiar chilblain lupus due a mutation of STING and the analysis of the molecular mechanism.","DOI":"10.1136\/annrheumdis-2016-209841"},{"key":"689_CR5","first-page":"463","volume":"31","author":"S Padeh","year":"2013","unstructured":"Padeh S, Gerstein M, Greenberger S, Berkun Y. Chronic chilblains: the clinical presentation and disease course in a large paediatric series. Clin Exp Rheumatol. 2013;31:463\u20138.","journal-title":"Clin Exp Rheumatol"},{"key":"689_CR6","unstructured":"\u2022\u2022 Liu Y, Jesus AA, Marrero B, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507\u201318. The first description of SAVI-Syndrome, a systemic disease with multiorgan involvement due to mutations of STING."},{"key":"689_CR7","doi-asserted-by":"crossref","unstructured":"Picard C, Thouvenin G, Kannengiesser C, Dubus JC, Jeremiah N, Rieux-Laucat F, et al. Severe pulmonary fibrosis as the first manifestation of interferonopathy (TMEM173 Mutation). Chest. 2016;150:e65\u201371.","DOI":"10.1016\/j.chest.2016.02.682"},{"key":"689_CR8","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.4049\/jimmunol.1500969","volume":"195","author":"EE Gray","year":"2015","unstructured":"Gray EE, Treuting PM, Woodward JJ, Stetson DB. Cutting Edge: cGAS is required for lethal autoimmune disease in the Trex1-deficient mouse model of Aicardi-Gouti\u00e8res syndrome. J Immunol. 2015;195:1939\u201343.","journal-title":"J Immunol"},{"key":"689_CR9","doi-asserted-by":"crossref","first-page":"e179","DOI":"10.1016\/j.jaad.2013.04.020","volume":"69","author":"C G\u00fcnther","year":"2013","unstructured":"G\u00fcnther C, Hillebrand M, Brunk J, Lee-Kirsch MA. Systemic involvement in TREX1-associated familial chilblain lupus. J Am Acad Dermatol. 2013;69:e179\u201381.","journal-title":"J Am Acad Dermatol"},{"key":"689_CR10","doi-asserted-by":"crossref","unstructured":"Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007;80:811\u20135.","DOI":"10.1086\/513443"},{"key":"689_CR11","doi-asserted-by":"crossref","unstructured":"Lee-Kirsch MA, Gong M, Schulz H, R\u00fcschendorf F, Stein A, Pfeiffer C, et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006;79:731\u20137.","DOI":"10.1086\/507848"},{"key":"689_CR12","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1001\/jamadermatol.2014.3438","volume":"151","author":"C G\u00fcnther","year":"2015","unstructured":"G\u00fcnther C, Berndt N, Wolf C, Lee-Kirsch MA. Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1). JAMA Dermatol. 2015;151:426\u201331.","journal-title":"JAMA Dermatol."},{"key":"689_CR13","doi-asserted-by":"crossref","unstructured":"Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti\u00e8res syndrome. Arthritis Rheum. 2010;62:1469\u201377.","DOI":"10.1002\/art.27367"},{"key":"689_CR14","doi-asserted-by":"crossref","unstructured":"Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi T, et al. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome\/familial chilblain lupus. Rheumatology (Oxford). 2013;52:406\u20138.","DOI":"10.1093\/rheumatology\/kes181"},{"key":"689_CR15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ana.410150109","volume":"15","author":"J Aicardi","year":"1984","unstructured":"Aicardi J, Goutieres F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15:49\u201354.","journal-title":"Ann Neurol"},{"key":"689_CR16","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.a.33778","volume":"155A","author":"JC Ravenscroft","year":"2011","unstructured":"Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011;155A:235\u20137.","journal-title":"Am J Med Genet A"},{"key":"689_CR17","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s10875-015-0147-3","volume":"35","author":"GI Rice","year":"2015","unstructured":"Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1. J Clin Immunol. 2015;35:235\u201343.","journal-title":"J Clin Immunol"},{"key":"689_CR18","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1073\/pnas.1423804112","volume":"112","author":"JL Grieves","year":"2015","unstructured":"Grieves JL, Fye JM, Harvey S, Grayson JM, Hollis T, Perrino FW. Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. Proc Natl Acad Sci U S A. 2015;112:5117\u201322.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"689_CR19","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.cell.2008.06.032","volume":"134","author":"DB Stetson","year":"2008","unstructured":"Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic Initiation of autoimmunity. Cell. 2008;134:587\u201398.","journal-title":"Cell"},{"key":"689_CR20","doi-asserted-by":"crossref","unstructured":"Kretschmer S, Wolf C, K\u00f6nig N, Staroske W, Guck J, H\u00e4usler M, et al. 1SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2015;74:e17.","DOI":"10.1136\/annrheumdis-2013-204845"},{"key":"689_CR21","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1002\/art.38628","volume":"66","author":"L Chiche","year":"2014","unstructured":"Chiche L, Jourde-Chiche N, Whalen E, et al. Modular transcriptional repertoire analyses of adults with systemic lupus erythematosus reveal distinct type I and type II interferon signatures. Arthritis Rheum. 2014;66:1583\u201395.","journal-title":"Arthritis Rheum"},{"key":"689_CR22","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1073\/pnas.0337679100","volume":"100","author":"EC Baechler","year":"2003","unstructured":"Baechler EC, Batliwalla FM, Karypis G, et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci USA. 2003;100:2610\u20135.","journal-title":"Proc Natl Acad Sci USA"},{"key":"689_CR23","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1136\/annrheumdis-2015-208562","volume":"75","author":"M Khamashta","year":"2016","unstructured":"Khamashta M, Merrill JT, Werth VP, Furie R, Kalunian K, Illei GG, et al. Sifalimumab, an anti-interferon-\u03b1 monoclonal antibody, in moderate to severe systemic lupus erythematosus: a randomised, double-blind, placebo-controlled study. Ann Rheum Dis. 2016;75:1909\u201316.","journal-title":"Ann Rheum Dis"},{"key":"689_CR24","doi-asserted-by":"crossref","unstructured":"Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39:1065\u20137.","DOI":"10.1038\/ng2091"},{"key":"689_CR25","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/s00393-015-0027-5","volume":"75","author":"C G\u00fcnther","year":"2016","unstructured":"G\u00fcnther C, Schmidt F, K\u00f6nig N, Lee-Kirsch MA. Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons. Z Rheumatol. 2016;75:134\u201340.","journal-title":"Z Rheumatol"},{"key":"689_CR26","doi-asserted-by":"crossref","first-page":"4089","DOI":"10.4049\/jimmunol.1402793","volume":"194","author":"J An","year":"2015","unstructured":"An J, Woodward JJ, Sasaki T, Minie M, Elkon KB. Cutting edge: Antimalarial drugs inhibit IFN-\u03b2 production through blockade of cyclic GMP-AMP synthase-DNA interaction. J Immunol. 2015;194:4089\u201393.","journal-title":"J Immunol"},{"key":"689_CR27","doi-asserted-by":"crossref","unstructured":"Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014;124:5516\u201320.","DOI":"10.1172\/JCI79100"},{"key":"689_CR28","doi-asserted-by":"crossref","unstructured":"Munoz J, Rodi\u00e8re M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, et al. Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatol. 2015;151:872\u20137.","DOI":"10.1001\/jamadermatol.2015.0251"},{"key":"689_CR29","doi-asserted-by":"crossref","unstructured":"\u2022 T\u00fcngler V, K\u00f6nig N, G\u00fcnther C, Engel K, Fiehn C, Smitka M, et al. Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al. Ann Rheum Dis. 2016;75:e76. Description of patients with Aicardi\u2013Gouti\u00e8res syndrome treated with the JAK inhibitor ruxolitinib.","DOI":"10.1136\/annrheumdis-2016-210565"},{"key":"689_CR30","doi-asserted-by":"crossref","unstructured":"Fr\u00e9mond M-L, Rodero MP, Jeremiah N, et al. Efficacy of the Janus kinase \u00bd inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. J Allergy Clin Immunol. 2016; 138(6):1752\u20135.","DOI":"10.1016\/j.jaci.2016.07.015"},{"key":"689_CR31","doi-asserted-by":"crossref","unstructured":"\u2022 Rodero MP, Fr\u00e9mond ML, Rice GI, Neven B, Crow YJ. JAK inhibition in STING-associated interferonopathy. Ann Rheum Dis. 2016;75:e75. Response to K\u00f6nig et al. and discussion of the long-term efficiency of JAK inhibitors for interferonopathies.","DOI":"10.1136\/annrheumdis-2016-210504"},{"key":"689_CR32","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/j.jid.2016.02.015","volume":"136","author":"J Wenzel","year":"2016","unstructured":"Wenzel J, van Holt N, Maier J, Vonnahme M, Bieber T, Wolf D. AK1\/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. Journal of Investigative Dermatology. 2016;136:1281\u20133.","journal-title":"Journal of Investigative Dermatology"},{"key":"689_CR33","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1056\/NEJMc1412997","volume":"371","author":"T Hornung","year":"2014","unstructured":"Hornung T, Janzen V, Heidgen FJ, Wolf D, Bieber T, Wenzel J. Remission of recalcitrant dermatomyositis treated with ruxolitinib. N Engl J Med. 2014;371:2537\u20138.","journal-title":"N Engl J Med"},{"key":"689_CR34","first-page":"351","volume":"2","author":"A Jabbari","year":"2015","unstructured":"Jabbari A, Dai Z, Xing L, Cerise JE, Ramot Y, Berkun Y, et al. Reversal of alopecia areata following treatment with the JAK1\/2 inhibitor baricitinib. E Bio Medicine. 2015;2:351\u20135.","journal-title":"E Bio Medicine"}],"container-title":["Current Rheumatology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11926-017-0689-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11926-017-0689-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11926-017-0689-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T20:47:02Z","timestamp":1570049222000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11926-017-0689-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,26]]},"references-count":34,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["689"],"URL":"https:\/\/doi.org\/10.1007\/s11926-017-0689-x","relation":{},"ISSN":["1523-3774","1534-6307"],"issn-type":[{"value":"1523-3774","type":"print"},{"value":"1534-6307","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,26]]},"article-number":"61"}}