{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T19:15:48Z","timestamp":1793646948973,"version":"4.5.1"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T00:00:00Z","timestamp":1740873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1016\/j.ejmg.2025.105006","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T17:08:51Z","timestamp":1741021731000},"page":"105006","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Gouti\u00e8res syndrome"],"prefix":"10.1016","volume":"75","author":[{"given":"Ling","family":"Hou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengguang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2025.105006_bib1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2018.09.004","article-title":"Aicardi goutieres syndrome is associated with pulmonary hypertension","volume":"125","author":"Adang","year":"2018","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2025.105006_bib2","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/j.cell.2017.12.016","article-title":"Breaching self-tolerance to alu duplex RNA underlies MDA5-mediated inflammation","volume":"172","author":"Ahmad","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2025.105006_bib3","doi-asserted-by":"crossref","first-page":"8342","DOI":"10.1073\/pnas.1704259114","article-title":"Severe viral respiratory infections in children with IFIH1 loss-of-function mutations","volume":"114","author":"Asgari","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejmg.2025.105006_bib4","series-title":"GeneReviews((R))","article-title":"Aicardi-Goutieres syndrome","author":"Crow","year":"1993"},{"key":"10.1016\/j.ejmg.2025.105006_bib5","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167A","author":"Crow","year":"2015","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib6","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1055\/s-0034-1389161","article-title":"Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia","volume":"45","author":"Crow","year":"2014","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejmg.2025.105006_bib7","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2024.108346","article-title":"Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutieres Syndrome (AGS)","volume":"142","author":"de Barcelos","year":"2024","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2025.105006_bib8","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.immuni.2013.12.014","article-title":"Autoimmune disorders associated with gain of function of the intracellular sensor MDA5","volume":"40","author":"Funabiki","year":"2014","journal-title":"Immunity"},{"key":"10.1016\/j.ejmg.2025.105006_bib9","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1038\/ni.3766","article-title":"The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity","volume":"18","author":"Gorman","year":"2017","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ejmg.2025.105006_bib10","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1212\/WNL.0000000000004921","article-title":"An open-label trial of JAK 1\/2 blockade in progressive IFIH1-associated neuroinflammation","volume":"90","author":"Kothur","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2025.105006_bib11","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1007\/s10875-018-0563-2","article-title":"JAK 1\/2 blockade in MDA5 gain-of-function","volume":"38","author":"McLellan","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.ejmg.2025.105006_bib12","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2014.06.007","article-title":"Aicardi-Goutieres syndrome is caused by IFIH1 mutations","volume":"95","author":"Oda","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib13","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/ng.2933","article-title":"Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling","volume":"46","author":"Rice","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib14","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/humu.23975","article-title":"Genetic and phenotypic spectrum associated with IFIH1 gain-of-function","volume":"41","author":"Rice","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2025.105006_bib15","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.4049\/jimmunol.1100857","article-title":"Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients","volume":"187","author":"Robinson","year":"2011","journal-title":"J. Immunol."},{"key":"10.1016\/j.ejmg.2025.105006_bib16","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ajhg.2014.12.014","article-title":"A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome","volume":"96","author":"Rutsch","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib17","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddae089","article-title":"Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling","author":"Shim","year":"2024","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib18","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","article-title":"cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing","volume":"52","author":"Uggenti","year":"2020","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2025.105006_bib19","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1056\/NEJMc2001362","article-title":"Janus kinase inhibition in the aicardi-goutieres syndrome","volume":"383","author":"Vanderver","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ejmg.2025.105006_bib20","article-title":"Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutieres syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency","volume":"13","author":"Zeleznik","year":"2022","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ejmg.2025.105006_bib21","article-title":"Neurological findings and a brief review of the current literature in a severe case of aicardi-goutieres syndrome due to an IFIH1 mutation","author":"Zeleznik","year":"2024","journal-title":"Neuropediatrics"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000138?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000138?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T16:47:26Z","timestamp":1749142046000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721225000138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":21,"alternative-id":["S1769721225000138"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Gouti\u00e8res syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105006"}}