{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T09:13:11Z","timestamp":1788513191562,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T00:00:00Z","timestamp":1778371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T00:00:00Z","timestamp":1778371200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004320","name":"Shiraz University of Medical Sciences","doi-asserted-by":"publisher","award":["28314"],"award-info":[{"award-number":["28314"]}],"id":[{"id":"10.13039\/501100004320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Somatic mutations in the UBA1 gene cause VEXAS syndrome, which presents with inflammatory and hematological symptoms. Case studies show a strong overlap between VEXAS and myelodysplastic syndrome (MDS). Recognizing VEXAS is important for differential diagnosis in patients with both inflammation and MDS, as accurate identification guides treatment. The study focuses on determining how often canonical UBA1 mutations linked to VEXAS occur in MDS patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients diagnosed with MDS were enrolled in the study, and genomic DNA was isolated from bone marrow FFPE samples. Molecular analysis was performed using a specifically designed ARMS\u2010PCR approach. Additionally, protein\u2013protein interaction (PPI) studies combined with bioinformatic analyses were carried out to explore potential links between UBA1 and pyroptosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among the 149 MDS patients analyzed, none exhibited high\u2010Variant Allele Frequency (VAF) the canonical UBA1 point mutations linked to VEXAS syndrome. PPI analysis revealed a possible association between UBA1 and the NLRP3 inflammasome component.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Expanding the sample size and using targeted NGS or ddPCR would improve mutation detection sensitivity and could reveal UBA1 canonical and non\u2010canonical variants and more accurately estimate the frequency of VEXAS\u2010related mutations in the MDS population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ejh.70210","type":"journal-article","created":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T23:20:26Z","timestamp":1778455226000},"page":"913-921","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessing the Frequency of\n                    <scp>VEXAS<\/scp>\n                    \u2010Related Canonical\n                    <scp>UBA1<\/scp>\n                    Mutations in Myelodysplastic Syndrome Patients"],"prefix":"10.1111","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4787-6923","authenticated-orcid":false,"given":"Hadis","family":"Soleimanzadeh","sequence":"first","affiliation":[{"name":"Division of Hematology and Blood Bank, Department of Laboratory Sciences School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0719-8294","authenticated-orcid":false,"given":"Mohammadjafar","family":"Sharifi","sequence":"additional","affiliation":[{"name":"Division of Hematology and Blood Bank, Department of Laboratory Sciences School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansoureh","family":"Shokripour","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine, Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamileh","family":"Saberzadeh","sequence":"additional","affiliation":[{"name":"Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Division of Medical Biotechnology, Department of Laboratory Sciences, School of Paramedical Sciences Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mani","family":"Ramzi","sequence":"additional","affiliation":[{"name":"Hematology Research Center, Department of Hematology and Medical Oncology Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pardis","family":"Nematollahi","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine, Cancer Prevention Research Center, Seyyed Al\u2010Shohada Hospital, Isfahan University of Medical Science  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahid","family":"Nasiri","sequence":"additional","affiliation":[{"name":"Division of Hematology and Blood Bank, Department of Laboratory Sciences School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41584-022-00778-4"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri.2016.62"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20805"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab524"},{"issue":"26","key":"e_1_2_12_7_1","first-page":"3682","article-title":"Therapeutic Options in VEXAS Syndrome: Insights From a Retrospective Series","volume":"137","author":"Bourbon E.","year":"2021","journal-title":"Blood, the Journal of the American Society of Hematology"},{"issue":"26","key":"e_1_2_12_8_1","first-page":"3676","article-title":"Novel Somatic Mutations in UBA1 as a Cause of VEXAS Syndrome","volume":"137","author":"Poulter J. 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