{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T19:28:29Z","timestamp":1780514909200,"version":"3.54.1"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T00:00:00Z","timestamp":1778371200000},"content-version":"vor","delay-in-days":9,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23tk0124003h0001"],"award-info":[{"award-number":["23tk0124003h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ck0106353h0003"],"award-info":[{"award-number":["JP19ck0106353h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["19H05656"],"award-info":[{"award-number":["19H05656"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["24H00009"],"award-info":[{"award-number":["24H00009"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["18H02836"],"award-info":[{"award-number":["18H02836"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FY2025 Kyoto University Hospital Research Fund for Young Scientists"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cold agglutinin disease (CAD) is an uncommon hemolytic anemia by complement-fixing IgM autoantibodies and is frequently associated with a distinct clonal B-cell lymphoproliferative disorder (CAD-LPD). We report a woman in her 50\u2019s with progressive fatigue who presented with hemolytic anemia and an IgM-\u03ba paraprotein. Bone marrow examination revealed a small clonal B-cell population (5.8%) with a CLL-like immunophenotype. Despite the absence of peripheral lymphocytosis or established treatment indications for chronic lymphocytic leukemia (CLL), B-cell\u2013directed therapy, including ibrutinib and venetoclax plus rituximab, was administered over the course of approximately one year based on the initial diagnostic impression, but failed to control hemolysis. Targeted next-generation sequencing identified a KMT2D frameshift mutation, supporting a diagnosis of CAD-LPD rather than monoclonal B-cell lymphocytosis. Subsequent treatment with the C1s inhibitor sutimlimab resulted in sustained resolution of hemolysis. This case highlights diagnostic pitfalls in CAD and underscores the value of molecular profiling in guiding appropriate therapy.<\/jats:p>","DOI":"10.1093\/omcr\/omag061","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T12:36:56Z","timestamp":1774355816000},"source":"Crossref","is-referenced-by-count":1,"title":["A diagnostic pitfall in cold agglutinin disease: KMT2D-mutated CAD-associated lymphoproliferative disorder with a CLL-like immunophenotype"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9515-8139","authenticated-orcid":false,"given":"Yusuke","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Hematology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Arima","sequence":"additional","affiliation":[{"name":"Department of Hematology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Ishiyama","sequence":"additional","affiliation":[{"name":"Department of Hematology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhisa","family":"Chonabayashi","sequence":"additional","affiliation":[{"name":"Department of Hematology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junya","family":"Kanda","sequence":"additional","affiliation":[{"name":"Department of Hematology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 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of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]},{"name":"Division of Hematopoietic Disease Control, Institute of Medical Science, The University of Tokyo , 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]},{"name":"Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University , Yoshidakonoe-cho, Sakyo-ku, Kyoto 606-8303 ,","place":["Japan"]},{"name":"Department of Innovative Medicine, Faculty of Medicine, Kindai University , 377-2 Ono-Higashi, Osakasayama, Osaka 589-0014 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