Edoardo Galli, Christoph T Berger, Thomas Daikeler, Anne-Kathrin Peyer Kauffmann, Marc Emmenegger, Armin Droll, Andrea Egger, Michael Sinnreich, Mike Recher
{"title":"Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar.","authors":"Edoardo Galli, Christoph T Berger, Thomas Daikeler, Anne-Kathrin Peyer Kauffmann, Marc Emmenegger, Armin Droll, Andrea Egger, Michael Sinnreich, Mike Recher","doi":"10.70962/jhi.20250223","DOIUrl":null,"url":null,"abstract":"<p><p>Myotonic dystrophy type 1 is a rare, underdiagnosed genetic neuromuscular disorder that is often accompanied by hypogammaglobulinemia, serving as a crucial diagnostic clue. We report the clinical and immunophenotypic features of two patients and discuss the underlying pathogenesis.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"2 6","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2026-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13625849/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of human immunity","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.70962/jhi.20250223","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/9/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Myotonic dystrophy type 1 is a rare, underdiagnosed genetic neuromuscular disorder that is often accompanied by hypogammaglobulinemia, serving as a crucial diagnostic clue. We report the clinical and immunophenotypic features of two patients and discuss the underlying pathogenesis.
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