Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/54801
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dc.contributor.authorTokgun, Pervin Elvan-
dc.contributor.authorKaragenc, Nedim-
dc.contributor.authorKarasu, Uğur-
dc.contributor.authorTokgun, Onur-
dc.contributor.authorTurel, Samet-
dc.contributor.authorDemiray, Aydın-
dc.contributor.authorAkca, Hakan-
dc.contributor.authorYüksel, Selçuk-
dc.date.accessioned2023-11-18T09:29:22Z-
dc.date.available2023-11-18T09:29:22Z-
dc.date.issued2023-
dc.identifier.issn2618-6500-
dc.identifier.urihttps://doi.org/10.46497/ArchRheumatol.2023.9927-
dc.identifier.urihttps://hdl.handle.net/11499/54801-
dc.description.abstractObjectives: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. Patients and methods: A clinical exome sequencing analysis was performed in 10 individuals in the same family using the Sophia Genetics clinical exome solution kit. Results: A novel V194L mutation in the TMEM173 gene was identified in three members of the family. Two of the family members were treated with the JAK3 inhibitor tofacitinib and recovered completely one month after the treatment. Conclusion: The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib. © 2023 Turkish League Against Rheumatism. All rights reserved.en_US
dc.language.isoenen_US
dc.publisherTurkish League Against Rheumatism (TLAR)en_US
dc.relation.ispartofArchives of Rheumatologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSTING–associated vasculopathy with onset in infancyen_US
dc.subjecttofacitiniben_US
dc.subjectV194L mutationen_US
dc.subjectadalimumaben_US
dc.subjectalanine aminotransferaseen_US
dc.subjectaspartate aminotransferaseen_US
dc.subjectcolchicineen_US
dc.subjectferritinen_US
dc.subjectindometacinen_US
dc.subjectJanus kinase 3 inhibitoren_US
dc.subjectleflunomideen_US
dc.subjectmembrane proteinen_US
dc.subjectmethylprednisoloneen_US
dc.subjectsecukinumaben_US
dc.subjecttofacitiniben_US
dc.subjecttransmembrane protein 173en_US
dc.subjectunclassified drugen_US
dc.subjectadulten_US
dc.subjectarthropathyen_US
dc.subjectArticleen_US
dc.subjectautoinflammatory diseaseen_US
dc.subjectbiochemistryen_US
dc.subjectchilden_US
dc.subjectcopy number variationen_US
dc.subjectDNA extractionen_US
dc.subjectfemaleen_US
dc.subjectfollow upen_US
dc.subjectgene frequencyen_US
dc.subjectgene mutationen_US
dc.subjecthumanen_US
dc.subjectinfancyen_US
dc.subjectpredictionen_US
dc.subjectprevalenceen_US
dc.subjectpsoriasisen_US
dc.subjectrashen_US
dc.subjectrheumatoid arthritisen_US
dc.subjectswellingen_US
dc.subjectthorax radiographyen_US
dc.subjectvascular diseaseen_US
dc.subjectwhole exome sequencingen_US
dc.subjectyoung adulten_US
dc.titleTreatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitiniben_US
dc.typeArticleen_US
dc.identifier.volume38en_US
dc.identifier.issue3en_US
dc.identifier.startpage461en_US
dc.identifier.endpage467en_US
dc.departmentPamukkale Universityen_US
dc.identifier.doi10.46497/ArchRheumatol.2023.9927-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorscopusid57194019069-
dc.authorscopusid14829084900-
dc.authorscopusid57193971359-
dc.authorscopusid36961438000-
dc.authorscopusid55923814400-
dc.authorscopusid6503919483-
dc.authorscopusid6602146139-
dc.identifier.scopus2-s2.0-85172233743en_US
dc.identifier.wosWOS:001108061700017en_US
dc.institutionauthor…-
item.openairetypeArticle-
item.grantfulltextopen-
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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