{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:59:06Z","timestamp":1776898746198,"version":"3.51.2"},"reference-count":21,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Antibodies"],"abstract":"<jats:p>Anti-RuvBL1\/2 autoantibodies have recently been detected in patients with systemic sclerosis (SSc) and scleromyositis overlap syndromes. These autoantibodies exhibit a distinct speckled pattern in an indirect immunofluorescent assay on Hep-2 cells. We report the case of a 48 year old man with facial changes, Raynaud\u2019s phenomenon, puffy fingers, and muscle pain. A speckled pattern on Hep-2 cells was identified, but the conventional antibody testing was negative. Based on the clinical suspicion and the ANA pattern, further testing was sought demonstrating anti-RuvBL1\/2 autoantibodies. Hence, a review of the English literature was performed to define this newly emerging clinical\u2013serological syndrome. With the one here reported, a total of 52 cases have been described to date (December 2022). Anti-RuvBL1\/2 autoantibodies are highly specific for SSc and are associated with SSc\/PM overlaps. Apart from myopathy, gastrointestinal and pulmonary involvement are frequently observed in these patients (94% and 88%, respectively).<\/jats:p>","DOI":"10.3390\/antib12010013","type":"journal-article","created":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T02:05:28Z","timestamp":1675389928000},"page":"13","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Anti-RuvBL1\/2 Autoantibodies Detection in a Patient with Overlap Systemic Sclerosis and Polymyositis"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4862-4010","authenticated-orcid":false,"given":"Linda","family":"Di Pietro","sequence":"first","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Chiccoli","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5831-0392","authenticated-orcid":false,"given":"Lorenzo","family":"Salvati","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"},{"name":"Allergology and Clinical Immunology Unit, Azienda Usl Toscana Sud Est, San Donato Hospital, 52100 Arezzo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Vivarelli","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"},{"name":"Immunoallergology Unit, Careggi University Hospital, 50134 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Vultaggio","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"},{"name":"Immunoallergology Unit, Careggi University Hospital, 50134 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Matucci","sequence":"additional","affiliation":[{"name":"Immunoallergology Unit, Careggi University Hospital, 50134 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chelsea","family":"Bentow","sequence":"additional","affiliation":[{"name":"Research and Development, Autoimmunity, Werfen, Autoimmunity Headquarters and Technology Center, San Diego, CA 92131-1638, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Mahler","sequence":"additional","affiliation":[{"name":"Research and Development, Autoimmunity, Werfen, Autoimmunity Headquarters and Technology Center, San Diego, CA 92131-1638, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9184-5089","authenticated-orcid":false,"given":"Paola","family":"Parronchi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"},{"name":"Immunology and Cell Therapy Unit, Careggi University Hospital, 50134 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boaz","family":"Palterer","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla, 3, 50121 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1002\/art.1780230602","article-title":"Diversity of antinuclear antibodies in progressive systemic sclerosis. Anti-centromere antibody and its relationship to CREST syndrome","volume":"6","author":"Tan","year":"1980","journal-title":"Arthritis Rheum."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/art.1780310309","article-title":"Clinical associations of anticentromere antibodies and antibodies to topoisomerase I. A study of 355 patients","volume":"31","author":"Weiner","year":"1988","journal-title":"Arthritis Rheum."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1136\/annrheumdis-2013-204424","article-title":"2013 classification criteria for systemic sclerosis: An American college of rheumatology\/European league against rheumatism collaborative initiative","volume":"72","author":"Khanna","year":"2013","journal-title":"Ann. Rheum. Dis."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s40674-016-0050-y","article-title":"Autoantibodies and Their Role in Scleroderma Clinical Care","volume":"2","author":"Domsic","year":"2016","journal-title":"Curr. Treat. Options Rheum."},{"key":"ref_5","first-page":"1","article-title":"Systemic Sclerosis-Specific Antibodies: Novel and Classical Biomarkers","volume":"18","author":"Cavazzana","year":"2022","journal-title":"Clin. Rev. Allergy Immunol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2667","DOI":"10.1056\/NEJMoa052955","article-title":"Stimulatory autoantibodies to the PDGF receptor in systemic sclerosis","volume":"354","author":"Baroni","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.autrev.2018.01.006","article-title":"Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype","volume":"17","author":"Fritzler","year":"2018","journal-title":"Autoimmun. Rev."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.autrev.2007.01.013","article-title":"Novel aspects of autoantibodies to the PM\/Scl complex: Clinical, genetic and diagnostic insights","volume":"6","author":"Mahler","year":"2007","journal-title":"Autoimmun. Rev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1002\/art.39755","article-title":"Brief Report: Anti-Eukaryotic Initiation Factor 2B Autoantibodies Are Associated with Interstitial Lung Disease in Patients with Systemic Sclerosis","volume":"68","author":"Betteridge","year":"2016","journal-title":"Arthritis Rheumatol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.jsb.2011.09.001","article-title":"Structural and functional insights into a dodecameric molecular machine-the RuvBL1\/RuvBL2 complex","volume":"176","author":"Gorynia","year":"2011","journal-title":"J. Struct. Biol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/acr.22163","article-title":"Autoantibodies to RuvBL1 and RuvBL2: A novel systemic sclerosis-related antibody associated with diffuse cutaneous and skeletal muscle involvement","volume":"66","author":"Kaji","year":"2014","journal-title":"Arthritis Care Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s12948-018-0084-9","article-title":"Bench to bedside review of myositis autoantibodies","volume":"16","author":"Palterer","year":"2018","journal-title":"Clin. Mol. Allergy."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1111\/1346-8138.13656","article-title":"Case of anti-RuvBL1\/2 antibody-positive morphea and polymyositis","volume":"44","author":"Takahashi","year":"2017","journal-title":"J. Dermatol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1093\/rheumatology\/kex458","article-title":"Presence of anti-eukaryotic initiation factor-2B, anti-RuvBL1\/2 and anti-synthetase antibodies in patients with anti-nuclear antibody negative systemic sclerosis","volume":"57","author":"Pauling","year":"2018","journal-title":"Rheumatology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1684\/ejd.2019.3684","article-title":"A case of anti-RuvBL1\/2 antibody-positive systemic sclerosis overlapping with myositis","volume":"30","author":"Nomura","year":"2020","journal-title":"Eur. J. Dermatol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e001357","DOI":"10.1136\/rmdopen-2020-001357","article-title":"Recognising the spectrum of scleromyositis: HEp-2 ANA patterns allow identification of a novel clinical subset with anti-SMN autoantibodies","volume":"6","author":"Hoa","year":"2020","journal-title":"RMD Open"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1136\/annrheumdis-2021-220004","article-title":"Anti-RuvBL1\/2 autoantibodies in patients with systemic sclerosis or idiopathic inflammatory myopathy and a nuclear speckled pattern","volume":"81","author":"Vulsteke","year":"2022","journal-title":"Ann. Rheum. Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"498","DOI":"10.3109\/03009741003774626","article-title":"Myopathies related to systemic sclerosis: A case-control study of associated clinical and immunological features","volume":"39","author":"Ranque","year":"2010","journal-title":"Scand. J. Rheumatol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1093\/rheumatology\/keab492","article-title":"Autoantibody profiles delineate distinct subsets of scleromyositis","volume":"61","author":"Leclair","year":"2022","journal-title":"Rheumatology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"679613","DOI":"10.3389\/fimmu.2021.679613","article-title":"Autoantibody Discovery, Assay Development and Adoption: Death Valley, the Sea of Survival and Beyond","volume":"12","author":"Fritzler","year":"2021","journal-title":"Front. Immunol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1136\/annrheumdis-2017-211468","article-title":"2017 European League Against Rheumatism\/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups","volume":"76","author":"Lundberg","year":"2017","journal-title":"Ann. Rheum. 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