Case report: VEXAS syndrome: first documented cases in Latin America
Resumen:
Introduction: VEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene. Predominantly affecting adult males, it is characterized by a wide range of autoinflammatory symptoms and hematologic abnormalities.Methods: We present three cases from Latin America, marking the first reported occurrences in this region, to illustrate the clinical variability and diagnostic challenges of VEXAS syndrome.Results: Each patient exhibited unique clinical presentations, including refractory autoinflammatory symptoms, myelodysplastic syndrome, and bone marrow vacuolization. All cases were confirmed via genetic testing, revealing pathogenic UBA1 mutations alongside other genetic variants commonly linked with myeloid neoplasms.Discussion: These findings underscore the importance of considering VEXAS syndrome in patients with unexplained inflammatory and hematologic symptoms. The coexistence of UBA1 mutations with other genetic variants suggests a potential overlap with clonal hematopoiesis, complicating the clinical picture. These cases contribute to the understanding of VEXAS syndrome and highlight the need for increased awareness and diagnostic testing in diverse populations to ensure early and accurate diagnosis.
| 2024 | |
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VEXAS syndrome Myelodysplastic syndrome Diagnosis Management Latin AMerica ENFERMEDADES AUTOINMUNES ENFERMEDADES HEMATOLÓGICAS INFLAMACIÓN GENÉTICA MUTACIÓN VACUOLAS CROMOSOMA X ENFERMEDADES DEL SISTEMA INMUNE SISTEMA INMUNOLÓGICO DIGNÓSTICO SÍNDROMES MIELODISPLÁSICOS |
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| Inglés | |
| Universidad de la República | |
| COLIBRI | |
| https://hdl.handle.net/20.500.12008/56118 | |
| Acceso abierto | |
| Licencia Creative Commons Atribución (CC - By 4.0) |
| _version_ | 1877555273812410368 |
|---|---|
| author | Ottati, Carolina |
| author2 | Gervaz, Inés Yandian, Martín Boada, Matilde Vidal-Senmache, Gabriela Ortiz-Guerra, Percy Catalán, Ana I. Kutscher, Patricia López, Diego Díaz, Lilian Grille, Sofía |
| author2_role | author author author author author author author author author author |
| author_facet | Ottati, Carolina Gervaz, Inés Yandian, Martín Boada, Matilde Vidal-Senmache, Gabriela Ortiz-Guerra, Percy Catalán, Ana I. Kutscher, Patricia López, Diego Díaz, Lilian Grille, Sofía |
| author_role | author |
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| collection | COLIBRI |
| dc.contributor.filiacion.none.fl_str_mv | Ottati Carolina, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular Gervaz Inés, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología Yandian Martín, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas; Médica Uruguaya (Uruguay). Departamento de Hematología Boada Matilde, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología Vidal-Senmache Gabriela, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de Hematología Ortiz-Guerra Percy, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de Hematología Catalán Ana I., Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular Kutscher Patricia, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de Dermatología López Diego, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de Dermatología Díaz Lilian, Médica Uruguaya (Uruguay). Departamento de Hematología Grille Sofía, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología |
| dc.coverage.spatial.es.fl_str_mv | AMÉRICA LATINA |
| dc.creator.none.fl_str_mv | Ottati, Carolina Gervaz, Inés Yandian, Martín Boada, Matilde Vidal-Senmache, Gabriela Ortiz-Guerra, Percy Catalán, Ana I. Kutscher, Patricia López, Diego Díaz, Lilian Grille, Sofía |
| dc.date.accessioned.none.fl_str_mv | 2026-07-17T13:46:16Z |
| dc.date.available.none.fl_str_mv | 2026-07-17T13:46:16Z |
| dc.date.issued.none.fl_str_mv | 2024 |
| dc.description.abstract.none.fl_txt_mv | Introduction: VEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene. Predominantly affecting adult males, it is characterized by a wide range of autoinflammatory symptoms and hematologic abnormalities.Methods: We present three cases from Latin America, marking the first reported occurrences in this region, to illustrate the clinical variability and diagnostic challenges of VEXAS syndrome.Results: Each patient exhibited unique clinical presentations, including refractory autoinflammatory symptoms, myelodysplastic syndrome, and bone marrow vacuolization. All cases were confirmed via genetic testing, revealing pathogenic UBA1 mutations alongside other genetic variants commonly linked with myeloid neoplasms.Discussion: These findings underscore the importance of considering VEXAS syndrome in patients with unexplained inflammatory and hematologic symptoms. The coexistence of UBA1 mutations with other genetic variants suggests a potential overlap with clonal hematopoiesis, complicating the clinical picture. These cases contribute to the understanding of VEXAS syndrome and highlight the need for increased awareness and diagnostic testing in diverse populations to ensure early and accurate diagnosis. |
| dc.format.extent.es.fl_str_mv | 8 p. |
| dc.format.mimetype.es.fl_str_mv | application/pdf |
| dc.identifier.citation.es.fl_str_mv | Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p. |
| dc.identifier.doi.none.fl_str_mv | 10.3389/frhem.2024.1501337 |
| dc.identifier.eissn.none.fl_str_mv | 2813-3935 |
| dc.identifier.uri.none.fl_str_mv | https://hdl.handle.net/20.500.12008/56118 |
| dc.language.iso.none.fl_str_mv | en eng |
| dc.publisher.es.fl_str_mv | Frontiers Media |
| dc.relation.none.fl_str_mv | Frontiers in Hematology. 2024;3 |
| dc.rights.license.none.fl_str_mv | Licencia Creative Commons Atribución (CC - By 4.0) |
| dc.rights.none.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.source.none.fl_str_mv | reponame:COLIBRI instname:Universidad de la República instacron:Universidad de la República |
| dc.subject.es.fl_str_mv | VEXAS syndrome Myelodysplastic syndrome Diagnosis Management Latin AMerica |
| dc.subject.other.es.fl_str_mv | ENFERMEDADES AUTOINMUNES ENFERMEDADES HEMATOLÓGICAS INFLAMACIÓN GENÉTICA MUTACIÓN VACUOLAS CROMOSOMA X ENFERMEDADES DEL SISTEMA INMUNE SISTEMA INMUNOLÓGICO DIGNÓSTICO SÍNDROMES MIELODISPLÁSICOS |
| dc.title.none.fl_str_mv | Case report: VEXAS syndrome: first documented cases in Latin America |
| dc.type.es.fl_str_mv | Artículo |
| dc.type.none.fl_str_mv | info:eu-repo/semantics/article |
| dc.type.version.none.fl_str_mv | info:eu-repo/semantics/publishedVersion |
| description | Introduction: VEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene. Predominantly affecting adult males, it is characterized by a wide range of autoinflammatory symptoms and hematologic abnormalities.Methods: We present three cases from Latin America, marking the first reported occurrences in this region, to illustrate the clinical variability and diagnostic challenges of VEXAS syndrome.Results: Each patient exhibited unique clinical presentations, including refractory autoinflammatory symptoms, myelodysplastic syndrome, and bone marrow vacuolization. All cases were confirmed via genetic testing, revealing pathogenic UBA1 mutations alongside other genetic variants commonly linked with myeloid neoplasms.Discussion: These findings underscore the importance of considering VEXAS syndrome in patients with unexplained inflammatory and hematologic symptoms. The coexistence of UBA1 mutations with other genetic variants suggests a potential overlap with clonal hematopoiesis, complicating the clinical picture. These cases contribute to the understanding of VEXAS syndrome and highlight the need for increased awareness and diagnostic testing in diverse populations to ensure early and accurate diagnosis. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | COLIBRI_3ca16da4d5ce1835cdb051608fd8d920 |
| identifier_str_mv | Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p. 10.3389/frhem.2024.1501337 2813-3935 |
| instacron_str | Universidad de la República |
| institution | Universidad de la República |
| instname_str | Universidad de la República |
| language | eng |
| language_invalid_str_mv | en |
| network_acronym_str | COLIBRI |
| network_name_str | COLIBRI |
| oai_identifier_str | oai:colibri.udelar.edu.uy:20.500.12008/56118 |
| publishDate | 2024 |
| reponame_str | COLIBRI |
| repository.mail.fl_str_mv | karina.camps@seciu.edu.uy |
| repository.name.fl_str_mv | COLIBRI - Universidad de la República |
| repository_id_str | 4771 |
| rights_invalid_str_mv | Licencia Creative Commons Atribución (CC - By 4.0) |
| spelling | Ottati Carolina, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología MolecularGervaz Inés, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaYandian Martín, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas; Médica Uruguaya (Uruguay). Departamento de HematologíaBoada Matilde, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaVidal-Senmache Gabriela, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de HematologíaOrtiz-Guerra Percy, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de HematologíaCatalán Ana I., Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología MolecularKutscher Patricia, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de DermatologíaLópez Diego, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de DermatologíaDíaz Lilian, Médica Uruguaya (Uruguay). Departamento de HematologíaGrille Sofía, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaAMÉRICA LATINA2026-07-17T13:46:16Z2026-07-17T13:46:16Z2024Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p.https://hdl.handle.net/20.500.12008/5611810.3389/frhem.2024.15013372813-3935Introduction: VEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene. Predominantly affecting adult males, it is characterized by a wide range of autoinflammatory symptoms and hematologic abnormalities.Methods: We present three cases from Latin America, marking the first reported occurrences in this region, to illustrate the clinical variability and diagnostic challenges of VEXAS syndrome.Results: Each patient exhibited unique clinical presentations, including refractory autoinflammatory symptoms, myelodysplastic syndrome, and bone marrow vacuolization. All cases were confirmed via genetic testing, revealing pathogenic UBA1 mutations alongside other genetic variants commonly linked with myeloid neoplasms.Discussion: These findings underscore the importance of considering VEXAS syndrome in patients with unexplained inflammatory and hematologic symptoms. The coexistence of UBA1 mutations with other genetic variants suggests a potential overlap with clonal hematopoiesis, complicating the clinical picture. These cases contribute to the understanding of VEXAS syndrome and highlight the need for increased awareness and diagnostic testing in diverse populations to ensure early and accurate diagnosis.Submitted by Almiñana María Cecilia (marialminana@gmail.com) on 2026-07-16T18:05:14Z No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5)Approved for entry into archive by Almiñana María Cecilia (marialminana@gmail.com) on 2026-07-16T19:02:39Z (GMT) No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@seciu.edu.uy) on 2026-07-17T13:46:16Z (GMT). No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5) Previous issue date: 20248 p.application/pdfenengFrontiers MediaFrontiers in Hematology. 2024;3Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución (CC - By 4.0)VEXAS syndromeMyelodysplastic syndromeDiagnosisManagementLatin AMericaENFERMEDADES AUTOINMUNESENFERMEDADES HEMATOLÓGICASINFLAMACIÓNGENÉTICAMUTACIÓNVACUOLASCROMOSOMA XENFERMEDADES DEL SISTEMA INMUNESISTEMA INMUNOLÓGICODIGNÓSTICOSÍNDROMES MIELODISPLÁSICOSCase report: VEXAS syndrome: first documented cases in Latin AmericaArtículoinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionreponame:COLIBRIinstname:Universidad de la Repúblicainstacron:Universidad de la RepúblicaOttati, CarolinaGervaz, InésYandian, MartínBoada, MatildeVidal-Senmache, GabrielaOrtiz-Guerra, PercyCatalán, Ana I.Kutscher, PatriciaLópez, DiegoDíaz, LilianGrille, SofíaLICENSElicense.txtlicense.txttext/plain; charset=utf-84267http://localhost:8080/xmlui/bitstream/20.500.12008/56118/5/license.txt6429389a7df7277b72b7924fdc7d47a9MD55CC-LICENSElicense_urllicense_urltext/plain; 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- Universidad de la Repúblicafalse |
| spellingShingle | Case report: VEXAS syndrome: first documented cases in Latin America Ottati, Carolina VEXAS syndrome Myelodysplastic syndrome Diagnosis Management Latin AMerica ENFERMEDADES AUTOINMUNES ENFERMEDADES HEMATOLÓGICAS INFLAMACIÓN GENÉTICA MUTACIÓN VACUOLAS CROMOSOMA X ENFERMEDADES DEL SISTEMA INMUNE SISTEMA INMUNOLÓGICO DIGNÓSTICO SÍNDROMES MIELODISPLÁSICOS |
| status_str | publishedVersion |
| title | Case report: VEXAS syndrome: first documented cases in Latin America |
| title_full | Case report: VEXAS syndrome: first documented cases in Latin America |
| title_fullStr | Case report: VEXAS syndrome: first documented cases in Latin America |
| title_full_unstemmed | Case report: VEXAS syndrome: first documented cases in Latin America |
| title_short | Case report: VEXAS syndrome: first documented cases in Latin America |
| title_sort | Case report: VEXAS syndrome: first documented cases in Latin America |
| topic | VEXAS syndrome Myelodysplastic syndrome Diagnosis Management Latin AMerica ENFERMEDADES AUTOINMUNES ENFERMEDADES HEMATOLÓGICAS INFLAMACIÓN GENÉTICA MUTACIÓN VACUOLAS CROMOSOMA X ENFERMEDADES DEL SISTEMA INMUNE SISTEMA INMUNOLÓGICO DIGNÓSTICO SÍNDROMES MIELODISPLÁSICOS |
| url | https://hdl.handle.net/20.500.12008/56118 |