{"doi":"10.1111/joim.70023","title":"Characterizing VEXAS syndrome in women: Findings from an international multicenter study","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>VEXAS syndrome is an autoinflammatory disease caused by somatic <jats:italic>UBA1</jats:italic> mutations on the X chromosome, predominantly affecting men.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>To characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We conducted an international, multicenter study, including 12 women and 301 men with genetically confirmed VEXAS syndrome. Data were collected using a standardized case report form. Bone marrow analyses and molecular investigations were performed locally.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Clinical features, age at onset, <jats:italic>UBA1</jats:italic> mutation type, variant allele frequency, and mortality were comparable between sexes. Acquired X monosomy was found in 6/8 tested women. Additional clonal mutations were present in 3/5 tested women. Three additional <jats:italic>UBA1</jats:italic>‐mutated women without typical inflammation are described separately.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>VEXAS syndrome affects women with clinical features similar to men, supporting the need for UBA1 testing in women with compatible presentations. X monosomy is common but not universal, suggesting alternative pathogenic mechanisms.</jats:p></jats:sec>","journal":"Journal of Internal Medicine","year":2025,"id":637211,"datarank":0.24141568686511508,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"self_citation_contribution":0.24141568686511508,"citation_network_contribution":0.0,"self_endowment_contribution":0.24141568686511508,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1654363,"name":"Valentin Lacombe","orcid":"0000-0002-7184-752X","position":1,"is_corresponding":false},{"id":218218,"name":"David B. Beck","orcid":"0000-0002-5884-6231","position":2,"is_corresponding":false},{"id":884570,"name":"Eduardo Martín‐Nares","orcid":"0000-0002-7911-1269","position":3,"is_corresponding":false},{"id":1654364,"name":"Vincent Jachiet","orcid":null,"position":4,"is_corresponding":false},{"id":1654365,"name":"Thibault Comont","orcid":"0000-0002-6891-9238","position":5,"is_corresponding":false},{"id":1117916,"name":"Joris Galland","orcid":null,"position":6,"is_corresponding":false},{"id":1390706,"name":"Maël Heiblig","orcid":"0000-0003-1682-8657","position":7,"is_corresponding":false},{"id":1654366,"name":"Alexandre Nguyen","orcid":null,"position":8,"is_corresponding":false},{"id":1441611,"name":"Achille Aouba","orcid":"0000-0003-1726-3811","position":9,"is_corresponding":false},{"id":1654367,"name":"Xavier Boulu","orcid":null,"position":10,"is_corresponding":false},{"id":1654368,"name":"Alexandre Curie","orcid":null,"position":11,"is_corresponding":false},{"id":104179,"name":"Benjamin Terrier","orcid":"0000-0001-6612-7336","position":12,"is_corresponding":false},{"id":1654369,"name":"Charles Bescond","orcid":null,"position":13,"is_corresponding":false},{"id":1654370,"name":"Matthew Koster","orcid":null,"position":14,"is_corresponding":false},{"id":473008,"name":"Yohei Kirino","orcid":"0000-0002-9488-661X","position":15,"is_corresponding":false},{"id":684007,"name":"Olivier Kosmider","orcid":"0000-0002-6021-4057","position":16,"is_corresponding":false},{"id":1102573,"name":"A. Mékinian","orcid":"0000-0003-2849-3049","position":17,"is_corresponding":false},{"id":302230,"name":"Sophie Georgin‐Lavialle","orcid":"0000-0001-6668-8854","position":18,"is_corresponding":false},{"id":1654362,"name":"Rim Bourguiba","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Characterizing VEXAS syndrome in women: Findings from an international multicenter study","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>VEXAS syndrome is an autoinflammatory disease caused by somatic <jats:italic>UBA1</jats:italic> mutations on the X chromosome, predominantly affecting men.</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>To characterize VEXAS syndrome in women and to compare the features of VEXAS syndrome between sexes.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We conducted an international, multicenter study, including 12 women and 301 men with genetically confirmed VEXAS syndrome. Data were collected using a standardized case report form. Bone marrow analyses and molecular investigations were performed locally.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Clinical features, age at onset, <jats:italic>UBA1</jats:italic> mutation type, variant allele frequency, and mortality were comparable between sexes. Acquired X monosomy was found in 6/8 tested women. Additional clonal mutations were present in 3/5 tested women. Three additional <jats:italic>UBA1</jats:italic>‐mutated women without typical inflammation are described separately.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>VEXAS syndrome affects women with clinical features similar to men, supporting the need for UBA1 testing in women with compatible presentations. 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