{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:10:47Z","timestamp":1790737847447,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01NS106845"],"award-info":[{"award-number":["U01NS106845"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>The purpose of this letter to the editor is to illustrate the effect of tofacitinib on psoriatic skin lesions in a patient with Aicardi\u2013Gouti\u00e8res syndrome (AGS) type 7\/Singleton-Merten syndrome 1. AGS is characterized by an encephalopathy of variable severity and systemic autoinflammatory manifestations due to continuous type I interferon (IFN) induction. While traditional JAK 1\/2 inhibitors like baricitinib and ruxolitinib have proven effectiveness for systemic inflammatory symptoms, they face reimbursement issues in some countries. Tofacitinib, a JAK 1\/3 inhibitor, significantly improved psoriatic skin lesions in our patient without the need for additional immunosuppressive therapy. Within one month of starting tofacitinib, psoriatic rashes and ulcerative skin lesions markedly improved, in the absence of a reduction in the IFN-stimulated gene signature or CD169 expression on monocytes. The clinical benefits persisted until the treatment was discontinued, after which symptoms recurred. Resuming tofacitinib treatment again led to improvement. No adverse effects were observed. This case highlights the potential of tofacitinib as a clinically effective treatment for psoriatic skin lesions in AGS and offers a viable alternative for JAK 1\/2 inhibitors for this target symptom. Further studies are needed to confirm the long-term safety of JAK 1\/3 inhibitors in AGS as well as their possible efficacy and dosing to address other systemic symptoms or neurologic manifestations.<\/jats:p>","DOI":"10.1186\/s13023-025-03675-7","type":"journal-article","created":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T13:01:13Z","timestamp":1743685273000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Gouti\u00e8res syndrome 7\/Singleton-Merten syndrome 1"],"prefix":"10.1186","volume":"20","author":[{"given":"Shanice","family":"Beerepoot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Grinwis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline L.","family":"Vanderver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7421-3370","authenticated-orcid":false,"given":"Taco W.","family":"Kuijpers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"issue":"10","key":"3675_CR1","doi-asserted-by":"publisher","first-page":"1931","DOI":"10.1136\/annrheumdis-2014-205396","volume":"74","author":"E Cuadrado","year":"2015","unstructured":"Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, et al. Aicardi-Goutieres syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2015;74(10):1931\u20139.","journal-title":"Ann Rheum Dis"},{"issue":"12","key":"3675_CR2","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","volume":"12","author":"GI Rice","year":"2013","unstructured":"Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, 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. 2013;12(12):1159\u201369.","journal-title":"Lancet Neurol"},{"issue":"10","key":"3675_CR3","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1056\/NEJMc2001362","volume":"383","author":"A Vanderver","year":"2020","unstructured":"Vanderver A, Adang L, Gavazzi F, McDonald K, Helman G, Frank DB, et al. Janus Kinase Inhibition in the Aicardi-Goutieres syndrome. N Engl J Med. 2020;383(10):986\u20139.","journal-title":"N Engl J Med"},{"issue":"22","key":"3675_CR4","doi-asserted-by":"publisher","first-page":"2190","DOI":"10.1056\/NEJMc2031081","volume":"383","author":"B Neven","year":"2020","unstructured":"Neven B, Al Adba B, Hully M, Desguerre I, Pressiat C, Boddaert N, et al. JAK inhibition in the Aicardi-Goutieres syndrome. N Engl J Med. 2020;383(22):2190\u20131.","journal-title":"N Engl J Med"},{"issue":"7","key":"3675_CR5","doi-asserted-by":"publisher","first-page":"3041","DOI":"10.1172\/JCI98814","volume":"128","author":"GAM Sanchez","year":"2018","unstructured":"Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, et al. JAK1\/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. 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Rheumatology (Oxford). 2022;61(5):2144\u201355.","journal-title":"Rheumatology (Oxford)"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03675-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03675-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03675-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T13:01:15Z","timestamp":1743685275000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03675-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,2]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3675"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03675-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,2]]},"assertion":[{"value":"4 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 March 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the local Institutional Review Board (protocol number: 2018.300), and appropriate written informed consent was obtained according to the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Clinical information and images were derived from medical records. Appropriate written informed consent for publication of the clinical information and images was obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors have declared no conflicts of interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"155"}}