{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:57:32Z","timestamp":1787497052794,"version":"build-2736575974"},"reference-count":143,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T00:00:00Z","timestamp":1707782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Relapsing polychondritis is a chronic autoimmune inflammatory condition characterized by recurrent episodes of inflammation at the level of cartilaginous structures and tissues rich in proteoglycans. The pathogenesis of the disease is complex and still incompletely elucidated. The data support the important role of a particular genetic predisposition, with HLA-DR4 being considered an allele that confers a major risk of disease occurrence. Environmental factors, mechanical, chemical or infectious, act as triggers in the development of clinical manifestations, causing the degradation of proteins and the release of cryptic cartilage antigens. Both humoral and cellular immunity play essential roles in the occurrence and perpetuation of autoimmunity and inflammation. Autoantibodies anti-type II, IX and XI collagens, anti-matrilin-1 and anti-COMPs (cartilage oligomeric matrix proteins) have been highlighted in increased titers, being correlated with disease activity and considered prognostic factors. Innate immunity cells, neutrophils, monocytes, macrophages, natural killer lymphocytes and eosinophils have been found in the perichondrium and cartilage, together with activated antigen-presenting cells, C3 deposits and immunoglobulins. Also, T cells play a decisive role in the pathogenesis of the disease, with relapsing polychondritis being considered a TH1-mediated condition. Thus, increased secretions of interferon \u03b3, interleukin (IL)-12 and IL-2 have been highlighted. The \u201cinflammatory storm\u201d formed by a complex network of pro-inflammatory cytokines and chemokines actively modulates the recruitment and infiltration of various cells, with cartilage being a source of antigens. Along with RP, VEXAS syndrome, another systemic autoimmune disease with genetic determinism, has an etiopathogenesis that is still incompletely known, and it involves the activation of the innate immune system through different pathways and the appearance of the cytokine storm. The clinical manifestations of VEXAS syndrome include an inflammatory phenotype often similar to that of RP, which raises diagnostic problems. The management of RP and VEXAS syndrome includes common immunosuppressive therapies whose main goal is to control systemic inflammatory manifestations. The objective of this paper is to detail the main etiopathogenetic mechanisms of a rare disease, summarizing the latest data and presenting the distinct features of these mechanisms.<\/jats:p>","DOI":"10.3390\/ijms25042261","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T04:18:22Z","timestamp":1707884302000},"page":"2261","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Autoimmunity and Autoinflammation: Relapsing Polychondritis and VEXAS Syndrome Challenge"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9800-9289","authenticated-orcid":false,"given":"Anca","family":"Cardoneanu","sequence":"first","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana Irina","family":"Rezus","sequence":"additional","affiliation":[{"name":"Discipline of Radiology, Surgery Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7361-4685","authenticated-orcid":false,"given":"Alexandra Maria","family":"Burlui","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Richter","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2784-0937","authenticated-orcid":false,"given":"Ioana","family":"Bratoiu","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana Ruxandra","family":"Mihai","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4856-867X","authenticated-orcid":false,"given":"Luana Andreea","family":"Macovei","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8175-2583","authenticated-orcid":false,"given":"Elena","family":"Rezus","sequence":"additional","affiliation":[{"name":"Discipline of Rheumatology, Medical Department II, University of Medicine and Pharmacy \u201cGrigore T Popa\u201d, 700115 Iasi, Romania"},{"name":"Clinical Rehabilitation Hospital, 700661 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Borgia, F., Giuffrida, R., Guarneri, F., and Cannav\u00f2, S.P. (2018). Relapsing Polychondritis: An Updated Review. Biomedicines, 6.","DOI":"10.3390\/biomedicines6030084"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/j.autrev.2010.02.016","article-title":"Relapsing polychondritis: An autoimmune disease with many faces","volume":"9","author":"Lahmer","year":"2010","journal-title":"Autoimmun. Rev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1007\/s10067-013-2328-x","article-title":"Relapsing polychondritis: A review","volume":"32","author":"Sharma","year":"2013","journal-title":"Clin. Rheumatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1056\/NEJMcpc079009","article-title":"Case records of the Massachusetts General Hospital. Case 14-2007. A 59-year old man with fever and pain and swelling of both eyes and the right ear","volume":"356","author":"Butterton","year":"2007","journal-title":"N. Engl. J. Med."},{"key":"ref_5","first-page":"93","article-title":"Polychondropathia","volume":"6","year":"1923","journal-title":"Wien. Arch. Inn. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1056\/NEJM196007142630201","article-title":"Relapsing polychondritis","volume":"263","author":"Pearson","year":"1960","journal-title":"N. Engl. J. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1007\/s00296-016-3449-8","article-title":"Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature","volume":"36","author":"Lin","year":"2016","journal-title":"Rheumatol. Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/B978-0-7020-4086-3.00029-1","article-title":"Rheumatoid arthritis, spondyloarthropathies, and relapsing polychondritis","volume":"119","author":"Ostrowski","year":"2014","journal-title":"Handb. Clin. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1288\/00005537-197906000-00009","article-title":"Relapsing polychondritis\u2014Report of ten cases","volume":"89","author":"Damiani","year":"1979","journal-title":"Laryngoscope"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jaut.2014.01.026","article-title":"Diagnosis and classification of relapsing polychondritis","volume":"48","author":"Cantarini","year":"2014","journal-title":"J. Autoimmun."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.3899\/jrheum.200083","article-title":"Relapsing polychondritis and large-vessel vasculitis","volume":"47","author":"Ferrada","year":"2020","journal-title":"J. Rheumatol."},{"key":"ref_12","first-page":"96","article-title":"Relapsing polychondritis: Clinical and immunogenetic analysis of 62 patients","volume":"24","author":"Zeuner","year":"1997","journal-title":"J. Rheumatol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/00005792-200105000-00003","article-title":"Dermatologic manifestations of relapsing polychondritis: A study of 200 cases at a single center","volume":"80","author":"Frances","year":"2000","journal-title":"Medicine"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2992","DOI":"10.1002\/art.39790","article-title":"Relapsing polychondritis can be characterized by three different clinical phenotypes: Analysis of a recent series of 142 patients","volume":"68","author":"Dion","year":"2016","journal-title":"Arthritis Rheumatol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/cei\/uxad014","article-title":"Progress and challenges in the use of blood biomarkers in relapsing polychondritis","volume":"212","author":"Liu","year":"2023","journal-title":"Clin. Exp. Immunol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/art.1780360513","article-title":"Susceptibility to relapsing polychondritis is associated with HLA-DR4","volume":"36","author":"Lang","year":"1993","journal-title":"Arthritis Rheum."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jaut.2009.03.007","article-title":"The genetics and epigenetics of autoimmune diseases","volume":"33","author":"Hewagama","year":"2009","journal-title":"J. Autoimmun."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1055753","DOI":"10.3389\/fmed.2023.1055753","article-title":"Innate immune responses in Beh\u00e7et disease and relapsing polychondritis","volume":"10","author":"Shimizu","year":"2023","journal-title":"Front. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"5046","DOI":"10.4049\/jimmunol.161.9.5046","article-title":"HLA-DQ6\/8 double transgenic mice develop auricular chondritis following type II collagen immunization: A model for human relapsing polychondritis","volume":"161","author":"Bradley","year":"1998","journal-title":"J. Immunol."},{"key":"ref_20","first-page":"S261","article-title":"HLA-DQA1 AND DQB1 alleles are associated with susceptibility to relapsing polychondritis (RP): From transgenic mice to humans","volume":"42","author":"Amoura","year":"1999","journal-title":"Arthritis Rheum."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1093\/rheumatology\/kew233","article-title":"Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases","volume":"55","author":"Terao","year":"2016","journal-title":"Rheumatology"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","article-title":"Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease","volume":"383","author":"Beck","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1136\/annrheumdis-2021-220089","article-title":"Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis","volume":"80","author":"Tsuchida","year":"2021","journal-title":"Ann. Rheum. Dis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1002\/art.41743","article-title":"Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients with VEXAS","volume":"73","author":"Ferrada","year":"2021","journal-title":"Arthritis Rheumatol."},{"key":"ref_25","first-page":"453698","article-title":"Local cartilage trauma as a pathogenic factor in autoimmunity (one hypothesis based on patients with relapsing polychondritis triggered by cartilage trauma)","volume":"2012","author":"Canas","year":"2012","journal-title":"Autoimmune Dis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1080\/030097401753180426","article-title":"Does mechanical insult to cartilage trigger relapsing polychondritis?","volume":"30","author":"Alissa","year":"2001","journal-title":"Scand. J. Rheumatol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0002-9343(88)90597-9","article-title":"Polychondritis resulting from intravenous substance abuse","volume":"85","author":"Berger","year":"1988","journal-title":"Am. J. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"241","DOI":"10.3109\/03009742.2010.507551","article-title":"Bilateral pinna chondritis preceded by glucosamine chondroitin supplement initiation","volume":"40","author":"Furer","year":"2010","journal-title":"Scand. J. Rheumatol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1084\/jem.108.3.371","article-title":"The removal of cartilage matrix, in vivo, by papain: Identification of crystalline papain protease as the cause of the phenomenon","volume":"108","author":"Mccluskey","year":"1958","journal-title":"J. Exp. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1128\/CMR.12.1.19","article-title":"Role of heat shock proteins in protection from and pathogenesis of infectious diseases","volume":"12","author":"Zugel","year":"1999","journal-title":"Clin. Microbiol. Rev."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/BF00371591","article-title":"Autoantibodies to cartilage collagens in relapsing polychondritis","volume":"285","author":"Yang","year":"1993","journal-title":"Arch. Dermatol. Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s10067-011-1881-4","article-title":"Relapsing polychondritis associated with hepatitis C virus infection","volume":"31","author":"Hemmati","year":"2012","journal-title":"Clin. Rheumatol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.semarthrit.2003.11.001","article-title":"Relapsing polychondritis, chronic hepatitis C virus infection, and mixed cryoglobulemia","volume":"33","author":"Herrera","year":"2004","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1078\/0171-2985-00107","article-title":"Monoclonal autoantibodies from patients with autoimmune diseases: Specificity, affinity and crossreactivity of MAbs binding to cytoskeletal and nucleolar epitopes, cartilage antigens and mycobacterial heat-shock protein 60","volume":"205","author":"Menge","year":"2002","journal-title":"Immunobiology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1007\/s10067-015-2966-2","article-title":"Possible association of proinflammatory cytokines including IL1beta and TNFalpha with enhanced Th17 cell differentiation in patients with Behcet\u2019s disease","volume":"35","author":"Shimizu","year":"2016","journal-title":"Clin. Rheumatol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJM197811302992202","article-title":"Antibodies to type II collagen in relapsing polychondritis","volume":"299","author":"Foidart","year":"1978","journal-title":"N. Engl. J. Med."},{"key":"ref_37","first-page":"1419","article-title":"Preferential cellular and humoral immune reactivities to native and denatured collagen types IX and XI in a patient with fatal relapsing polychondritis","volume":"20","author":"Alsalameh","year":"1993","journal-title":"J. Rheumatol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1136\/ard.40.5.473","article-title":"Autoantibodies to cartilage and type II collagen in relapsing polychondritis and other rheumatic diseases","volume":"40","author":"Ebringer","year":"1981","journal-title":"Ann. Rheum. Dis."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/1529-0131(200201)46:1<238::AID-ART10030>3.0.CO;2-M","article-title":"Identification of type II collagen peptide 261-273-specific T cell clones in a patient with relapsing polychondritis","volume":"46","author":"Buckner","year":"2002","journal-title":"Arthritis Rheum."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/j.1399-0039.1984.tb00043.x","article-title":"Anti-type II collagen antibodies in rheumatoid arthritis. The influence of HLA phenotype","volume":"23","author":"Wooley","year":"1984","journal-title":"Tissue Antigens"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1002\/art.1780331006","article-title":"Specificity of antibodies to type II collagen in rheumatoid arthritis","volume":"33","author":"Terato","year":"1990","journal-title":"Arthritis Rheum."},{"key":"ref_42","first-page":"1843","article-title":"Auricular chondritis in NOD.DQ8.Abetao (Ag7\u2212\/\u2212) transgenic mice resembles human relapsing polychondritis","volume":"112","author":"Taneja","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1042\/bj3070595","article-title":"Evidence of a defined spatial arrangement of hyaluronate in the central filament of cartilage proteoglycan aggregates","volume":"307","author":"Paulsson","year":"1995","journal-title":"Biochem. J."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"17433","DOI":"10.1074\/jbc.273.28.17433","article-title":"Matrilin-3 forms disulfide-linked oligomers with matrilin-1 in bovine epiphyseal cartilage","volume":"273","author":"Wu","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/S0002-9440(10)63183-5","article-title":"Relapsing polychondritis, induced in mice with matrilin 1, is an antibody- and complement-dependent disease","volume":"164","author":"Hansson","year":"2004","journal-title":"Am. J. Pathol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"R134","DOI":"10.1186\/ar2023","article-title":"Mice expressing HLADQ6alpha8beta transgenes develop polychondritis spontaneously","volume":"8","author":"Lamoureux","year":"2006","journal-title":"Arthritis Res. Ther."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/bs.mcb.2017.08.018","article-title":"Matrilins","volume":"143","author":"Paulsson","year":"2018","journal-title":"Methods Cell Biol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/art.1780380224","article-title":"Serum concentrations of two cartilage matrix proteins reflecting different aspects of cartilage turnover in relapsing polychondritis","volume":"38","author":"Saxne","year":"1995","journal-title":"Arthritis Rheum."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1002\/1529-0131(200110)44:10<2402::AID-ART405>3.0.CO;2-L","article-title":"The occurrence of autoantibodies to matrilin 1 reflects a tissue-specific response to cartilage of the respiratory tract in patients with relapsing polychondritis","volume":"44","author":"Hansson","year":"2001","journal-title":"Arthritis Rheum."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"6132","DOI":"10.1016\/S0021-9258(18)42671-3","article-title":"Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage","volume":"267","author":"Hedbom","year":"1992","journal-title":"J. Biol. Chem."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.matbio.2018.02.023","article-title":"Cartilage oligomeric matrix protein: COMPopathies and beyond","volume":"71\u201372","author":"Posey","year":"2018","journal-title":"Matrix Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1172\/JCI5740","article-title":"A new animal model for relapsing polychondritis, induced by cartilage matrix protein (matrilin-1)","volume":"104","author":"Hansson","year":"1999","journal-title":"J. Clin. Investig."},{"key":"ref_53","first-page":"553","article-title":"Serum cartilage oligomeric matrix protein (COMP) level is a marker of disease activity in relapsing polychondritis","volume":"28","author":"Kempta","year":"2010","journal-title":"Clin. Exp. Rheumatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1136\/ard.52.5.384-b","article-title":"Antineutrophil cytoplasmic antibodies in polychondritis","volume":"52","author":"Papo","year":"1993","journal-title":"Ann. Rheum. Dis."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e9378","DOI":"10.1097\/MD.0000000000009378","article-title":"ANCA positive relapsing polychondritis, Graves disease, and suspected moyamoya disease: A case report","volume":"96","author":"Xuan","year":"2017","journal-title":"Medicine"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/ard.58.10.656","article-title":"Antinuclear antibodies in relapsing polychondritis","volume":"58","author":"Piette","year":"1999","journal-title":"Ann. Rheum. Dis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1007\/BF00714497","article-title":"Corneal autoimmunity in a patient with relapsing polychondritis","volume":"249","author":"Albers","year":"1992","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s004050050133","article-title":"Anti-labyrinthine antibodies in a patient with relapsing polychondritis","volume":"256","author":"Issing","year":"1999","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.jns.2009.08.004","article-title":"Autoantibodies to glutamate receptor GluRepsilon2 in a patient with limbic encephalitis associated with relapsing polychondritis","volume":"28","author":"Kashihara","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.anl.2004.09.012","article-title":"A case of relapsing polychondritis preceded by inner ear involvement","volume":"32","author":"Kumakiri","year":"2005","journal-title":"Auris Nasus Larynx"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"307868","DOI":"10.1155\/2015\/307868","article-title":"Early stage relapsing polychondritis diagnosed by nasal septum biopsy","volume":"2015","author":"Kobayashi","year":"2015","journal-title":"Case Rep. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"730","DOI":"10.3899\/jrheum.101044","article-title":"Cartilage destruction is partly induced by the internal proteolytic enzymes and apoptotic phenomenon of chondrocytes in relapsing polychondritis","volume":"38","author":"Ouchi","year":"2011","journal-title":"J. Rheumatol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.autrev.2013.07.005","article-title":"Pathogenesis of relapsing polychondritis: A 2013 update","volume":"13","author":"Arnaud","year":"2014","journal-title":"Autoimmun. Rev."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"4685","DOI":"10.1007\/s10067-021-05827-z","article-title":"Three new inflammatory markers C reactive protein to albumin ratio, neutrophil to lymphocyte ratio, and platelet to lymphocyte ratio correlated with relapsing polychondritis disease activity index","volume":"40","author":"Cao","year":"2021","journal-title":"Clin. Rheumatol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1097\/01.ico.0000227886.26747.a9","article-title":"Obliterative microangiopathy presenting as chronic conjunctivitis in a patient with relapsing polychondritis","volume":"25","author":"Yu","year":"2006","journal-title":"Cornea"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1002\/acr2.11301","article-title":"Serum MMP3 correlated with IL1beta messenger RNA expressions of peripheral blood mononuclear cells in patients with relapsing Polychondritis with respiratory involvement","volume":"3","author":"Shimizu","year":"2021","journal-title":"ACR Open Rheumatol."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Tammaro, A., Stroo, I., Rampanelli, E., Blank, F., Butter, L.M., Claessen, N., Takai, T., Colonna, M., Leemans, J.C., and Florquin, S. (2013). Role of TREM1-DAP12 in renal inflammation during obstructive nephropathy. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0082498"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3109\/14397595.2013.852854","article-title":"Serum level of soluble triggering receptor expressed on myeloid cells-1 as a biomarker of disease activity in relapsing polychondritis","volume":"24","author":"Sato","year":"2014","journal-title":"Mod. Rheumatol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"4065","DOI":"10.4049\/jimmunol.179.6.4065","article-title":"Metalloproteinases shed TREM-1 ectodomain from lipopolysaccharide-stimulated human monocytes","volume":"179","author":"Del","year":"2007","journal-title":"J. Immunol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1177\/000348940111001108","article-title":"Serum level of macrophage migration inhibitory factor as a useful parameter of clinical course in patients with Wegener\u2019s granulomatosis and relapsing polychondritis","volume":"110","author":"Ohwatari","year":"2001","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"3663","DOI":"10.1002\/art.20613","article-title":"Serum cytokine profiles in relapsing polychondritis suggest monocyte\/macrophage activation","volume":"50","author":"Stabler","year":"2004","journal-title":"Arthritis Rheum."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2942","DOI":"10.1002\/art.11281","article-title":"Urinary type II collagen neoepitope as an outcome measure for relapsing polychondritis","volume":"48","author":"Kraus","year":"2003","journal-title":"Arthritis Rheum."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"487","DOI":"10.55563\/clinexprheumatol\/qndtvt","article-title":"Absolute reduction of peripheral regulatory T cell in patients with relapsing polychondritis","volume":"39","author":"Hu","year":"2021","journal-title":"Clin. Exp. Rheumatol."},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Shimizu, J., Kubota, T., Takada, E., Takai, K., Fujiwara, N., Arimitsu, N., Murayama, M.A., Ueda, Y., Wakisaka, S., and Suzuki, T. (2018). Propionate-producing bacteria in the intestine may associate with skewed responses of IL10-producing regulatory T cells in patients with relapsing polychondritis. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0203657"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/j.1365-2249.2004.02471.x","article-title":"Immunoregulatory defects of V alpha 24V+ beta 11+ NKT cells in development of Wegener\u2019s granulomatosis and relapsing polychondritis","volume":"136","author":"Takagi","year":"2004","journal-title":"Clin. Exp. Immunol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1152\/physrev.00004.2022","article-title":"Clonal hematopoiesis, somatic mosaicism, and age-associated disease","volume":"103","author":"Evans","year":"2023","journal-title":"Physiol. Rev."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"103200","DOI":"10.1016\/j.dnarep.2021.103200","article-title":"Significance and limitations of the use of next-generation sequencing technologies for detecting mutational signatures","volume":"107","author":"Abbasi","year":"2021","journal-title":"DNA Repair."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev-cellbio-100617-062802","article-title":"Principles of ubiquitin dependent signaling","volume":"34","author":"Oh","year":"2018","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/nrm2673","article-title":"Ubiquitin-like protein activation by E1 enzymes: The apex for downstream signalling pathways","volume":"10","author":"Schulman","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.tibs.2017.09.002","article-title":"The Ubiquitin Code in the Ubiquitin-Proteasome System and Autophagy","volume":"42","author":"Kwon","year":"2017","journal-title":"Trends Biochem. Sci."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nrm.2017.83","article-title":"Ubiquitylation at the crossroads of development and disease","volume":"19","author":"Rape","year":"2018","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"399","DOI":"10.3389\/fimmu.2017.00399","article-title":"NF-kappaB pathway in autoinflammatory diseases: Dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases","volume":"8","author":"Aksentijevich","year":"2017","journal-title":"Front. Immunol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/bjh.17679","article-title":"Vacuoles in neutrophil precursors in VEXAS syndrome: Diagnostic performances and threshold","volume":"195","author":"Lacombe","year":"2021","journal-title":"Br. J. Haematol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1056\/NEJMc2102124","article-title":"Mutant UBA1 and severe adult-onset autoinflammatory disease","volume":"384","author":"Arlet","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1182\/blood.2022017560","article-title":"Lost in translation: Cytoplasmic UBA1 and VEXAS syndrome","volume":"140","author":"Stubbins","year":"2022","journal-title":"Blood"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1093\/mrcr\/rxab021","article-title":"UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review","volume":"6","author":"Shaukat","year":"2022","journal-title":"Mod. Rheumatol. Case Rep."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s40164-021-00217-2","article-title":"VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder","volume":"10","author":"Huang","year":"2021","journal-title":"Exp. Hematol. Oncol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1007\/s10238-022-00866-5","article-title":"MINHEMON: French Network of dysimmune disorders associated with hemopathies. Reduced peripheral blood dendritic cell and monocyte subsets in MDS patients with systemic inflammatory or dysimmune diseases","volume":"23","author":"Jachiet","year":"2023","journal-title":"Clin. Exp. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1093\/rheumatology\/keac371","article-title":"Influence of HLA polymorphisms on clinical features of VEXAS syndrome: A potential epistatic mechanism","volume":"62","author":"Lucchino","year":"2022","journal-title":"Rheumatology"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/bjd.20805","article-title":"Further characterization of clinical and laboratory features in VEXAS syndrome: Large-scale analysis of a multicentre case series of 116 French patients","volume":"186","author":"Terrier","year":"2022","journal-title":"Br. J. Dermatol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"E402","DOI":"10.1093\/rheumatology\/keab392","article-title":"VEXAS syndrome in a woman","volume":"60","author":"Barba","year":"2021","journal-title":"Rheumatology"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.3324\/haematol.2021.280238","article-title":"VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)","volume":"107","author":"Stubbins","year":"2022","journal-title":"Haematologica"},{"key":"ref_93","doi-asserted-by":"crossref","unstructured":"Templ\u00e9, M., and Kosmider, O. (2022). Syndrome: VEXAS. A Novelty in MDS Landscape. Diagnostics, 12.","DOI":"10.3390\/diagnostics12071590"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"3565","DOI":"10.1007\/s10067-022-06338-1","article-title":"Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: A case-based review","volume":"41","author":"Arostegui","year":"2022","journal-title":"Clin. Rheumatol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3203","DOI":"10.1182\/bloodadvances.2021004976","article-title":"Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1","volume":"5","author":"Obiorah","year":"2021","journal-title":"Blood Adv."},{"key":"ref_96","first-page":"e15","article-title":"Hematopoietic cells vacuolation, not always a reactive event. The VEXAS syndrome","volume":"45","year":"2023","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"108996","DOI":"10.1016\/j.clim.2022.108996","article-title":"Beh\u00e7et\u2019s disease with a somatic UBA1 variant: Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome","volume":"238","author":"Matsumoto","year":"2022","journal-title":"Clin. Immunol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"e002255","DOI":"10.1136\/rmdopen-2022-002255","article-title":"Comparison between idiopathic and VEXAS-relapsing polychondritis: Analysis of a French case series of 95 patients","volume":"8","author":"Khitri","year":"2022","journal-title":"RMD Open"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1182\/blood.2020010177","article-title":"Therapeutic options in VEXAS syndrome: Insights from a retrospective series","volume":"137","author":"Bourbon","year":"2021","journal-title":"Blood"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1016\/j.jaad.2022.01.042","article-title":"VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinfammatory, somatic) for the dermatolo gist","volume":"89","author":"Sterling","year":"2022","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1182\/blood.2022016985","article-title":"Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis","volume":"140","author":"Ferrada","year":"2022","journal-title":"Blood"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1111\/bjh.17893","article-title":"Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: Data from the French VEXAS registry","volume":"196","author":"Comont","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"2739","DOI":"10.1038\/s41375-022-01698-8","article-title":"A Phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune\/inflammatory disorders VEXAS syndrome associated with MDS and CMML","volume":"36","author":"Mekinian","year":"2022","journal-title":"Leukemia"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.jaci.2021.05.014","article-title":"Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS","volume":"149","author":"Potjewijd","year":"2022","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1080\/03009742.2022.2045791","article-title":"Orbital and periorbital infammation in VEXAS syndrome","volume":"51","author":"Grayson","year":"2022","journal-title":"Scand. J. Rheumatol."},{"key":"ref_106","first-page":"002484","article-title":"The VEXAS syndrome: Uncontrolled inflammation and macrocytic anaemia in a 77-year old male patient","volume":"8","author":"Himmelmann","year":"2021","journal-title":"Eur. J. Case Rep. Intern. Med."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1053\/j.seminhematol.2021.10.006","article-title":"Thrombotic manifestations of VEXAS syndrome","volume":"58","author":"Groarke","year":"2021","journal-title":"Semin. Hematol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1111\/jth.15858","article-title":"Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study","volume":"20","author":"Khider","year":"2022","journal-title":"J. Thromb. Haemost."},{"key":"ref_109","first-page":"797","article-title":"Expanding the spectrum of VEXAS syndrome: Association with acute-onset CIDP","volume":"93","author":"Briantais","year":"2021","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s10354-017-0559-1","article-title":"Relapsing polychondritis: A chameleon among orphan diseases","volume":"167","author":"Schumacher","year":"2017","journal-title":"Wien. Med. Wochenschr."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1111\/ijd.13755","article-title":"Relapsing polychondritis, an underestimated dermatological urgency: Case report and literature review","volume":"56","author":"Cuestas","year":"2017","journal-title":"Int. J. Dermatol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1067\/mjd.2002.105477","article-title":"Colchicine and indomethacin for the treatment of relapsing polychondritis","volume":"46","author":"Mark","year":"2002","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s11926-015-0549-5","article-title":"Relapsing Polychondritis: An Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives","volume":"18","author":"Vitale","year":"2016","journal-title":"Curr. Rheumatol. Rep."},{"key":"ref_114","first-page":"791951","article-title":"Relapsing polychondritis","volume":"2014","author":"Sosada","year":"2014","journal-title":"Case Rep. Dermatol. Med."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.berh.2016.08.001","article-title":"Relapsing polychondritis: A 2016 update on clinical features, diagnostic tools, treatment and biological drug use","volume":"30","author":"Mathian","year":"2016","journal-title":"Best Pract. Res. Clin. Rheumatol"},{"key":"ref_116","first-page":"2181","article-title":"Incidence and mortality of relapsing polychondritis in the UK: A population-based cohort study","volume":"54","author":"Hazra","year":"2015","journal-title":"Rheumatology"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"114","DOI":"10.7326\/0003-4819-129-2-199807150-00011","article-title":"Relapsing polychondritis","volume":"129","author":"Trentham","year":"1998","journal-title":"Ann. Intern. Med."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.jbspin.2014.01.001","article-title":"Relapsing polychondritis","volume":"81","author":"Terrier","year":"2014","journal-title":"Jt. Bone Spine"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1053\/sarh.2002.32586","article-title":"Relapsing polychondritis: A clinical review","volume":"31","author":"Letko","year":"2002","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s40257-016-0226-0","article-title":"Relapsing Polychondritis: A Review and Guide for the Dermatologist","volume":"18","author":"Smylie","year":"2017","journal-title":"Am. J. Clin. Dermatol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/j.semarthrit.2011.08.006","article-title":"Biologics in relapsing polychondritis: A literature review","volume":"41","author":"Kraus","year":"2012","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.jbspin.2015.04.018","article-title":"Tocilizumab for refractory relapsing polychondritis-long- term response monitoring by magnetic resonance imaging","volume":"83","author":"Henes","year":"2016","journal-title":"Jt. Bone Spine"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s00296-009-1308-6","article-title":"Treatment of relapsing polychondritis in the era of biological agents","volume":"30","author":"McCarthy","year":"2010","journal-title":"Rheumatol. Int."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.jbspin.2008.02.011","article-title":"Efficacy of anakinra in a patient with refractory relapsing polychondritis","volume":"75","author":"Wendling","year":"2008","journal-title":"Jt. Bone Spine"},{"key":"ref_125","first-page":"937","article-title":"Biologics in relapsing polychondritis: A case series","volume":"31","author":"Moulis","year":"2013","journal-title":"Clin. Exp. Rheumatol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1093\/rheumatology\/kep436","article-title":"Abatacept for relapsing polychondritis","volume":"49","author":"Moulis","year":"2010","journal-title":"Rheumatology"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1136\/annrheumdis-2013-203319","article-title":"Abatacept in relapsing polychondritis","volume":"72","author":"Peng","year":"2013","journal-title":"Ann. Rheum. Dis."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.clindermatol.2006.07.018","article-title":"Relapsing polychondritis","volume":"24","author":"Rapini","year":"2006","journal-title":"Clin. Dermatol."},{"key":"ref_129","first-page":"136","article-title":"Complete remission in refractory relapsing polychondritis with intravenous immunoglobulins","volume":"26","author":"Terrier","year":"2008","journal-title":"Clin. Exp. Rheumatol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1093\/rheumatology\/kex406","article-title":"Relapsing polychondritis: A clinical review for rheumatologists","volume":"57","author":"Kingdon","year":"2017","journal-title":"Rheumatology"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1001\/jamadermatol.2021.3344","article-title":"UBA1 Variations in neutrophilic dermatosis skin lesions of patients with VEXAS syndrome","volume":"157","author":"Zakine","year":"2021","journal-title":"JAMA Dermatol."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1080\/1744666X.2023.2157262","article-title":"An update on VEXAS syndrome","volume":"19","author":"Savic","year":"2023","journal-title":"Expert. Rev. Clin. Immunol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1182\/blood.2022016642","article-title":"Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: A retrospective multicenter study","volume":"140","author":"Heiblig","year":"2022","journal-title":"Blood"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"e661","DOI":"10.1097\/HS9.0000000000000661","article-title":"Azacytidine treatment for VEXAS syndrome","volume":"5","author":"Raaijmakers","year":"2021","journal-title":"HemaSphere"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1182\/blood.2021012130","article-title":"Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: A phase 2 study","volume":"139","author":"Patel","year":"2022","journal-title":"Blood"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2785","DOI":"10.3324\/haematol.2020.249995","article-title":"Eltrombopag monotherapy can improve hematopoiesis in patients with low to intermediate risk-1 myelodysplastic syndrome","volume":"105","author":"Vicente","year":"2020","journal-title":"Haematologica"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1182\/bloodadvances.2021004749","article-title":"Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: A 2-center experience","volume":"6","author":"Diarra","year":"2022","journal-title":"Blood Adv."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1111\/bjh.18488","article-title":"Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience","volume":"199","author":"Poulter","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_139","first-page":"E28","article-title":"Reduced intensity conditioning allogeneic hematopoietic stem cell trans plantation in VEXAS syndrome: Data from a prospective series of patients","volume":"98","author":"Mangaonkar","year":"2022","journal-title":"Am. J. Hematol."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"678927","DOI":"10.3389\/fimmu.2021.678927","article-title":"Case report: VEXAS syndrome: From mild symptoms to life-threatening macrophage activation syndrome","volume":"12","author":"Staels","year":"2021","journal-title":"Front. Immunol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1136\/annrheumdis-2021-220876","article-title":"Tocilizumab in VEXAS relapsing polychondritis: A single-center pilot study in Japan","volume":"80","author":"Kirino","year":"2021","journal-title":"Ann. Rheum. Dis."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1093\/rheumatology\/keac592","article-title":"JAK inhibitors in autoinflammatory syndromes? The long road from drug development to daily clinical use","volume":"62","author":"Guilpain","year":"2023","journal-title":"Rheumatology"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1182\/blood.2022017056","article-title":"Ruxolitinib takes center stage for VEXAS syndrome","volume":"140","author":"Conway","year":"2022","journal-title":"Blood"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/4\/2261\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T13:59:25Z","timestamp":1760104765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/4\/2261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,13]]},"references-count":143,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,2]]}},"alternative-id":["ijms25042261"],"URL":"https:\/\/doi.org\/10.3390\/ijms25042261","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,13]]}}}