{"title":"BCL10 deficiency: Long-term immune reconstitution following hematopoietic stem cell transplantation.","authors":"Marwa Ali, Anas M Alazami, Hamoud Al-Mousa","doi":"10.70962/jhi.20260126","DOIUrl":null,"url":null,"abstract":"<p><p>BCL10 deficiency is a rare combined immunodeficiency characterized by severe infections, chronic diarrhea, hypogammaglobulinemia, and impaired lymphocyte activation despite preserved lymphocyte counts. We report a novel homozygous BCL10 variant with durable cure and immune reconstitution following hematopoietic stem cell transplantation.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13682335/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of human immunity","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.70962/jhi.20260126","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/10/20 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
BCL10 deficiency is a rare combined immunodeficiency characterized by severe infections, chronic diarrhea, hypogammaglobulinemia, and impaired lymphocyte activation despite preserved lymphocyte counts. We report a novel homozygous BCL10 variant with durable cure and immune reconstitution following hematopoietic stem cell transplantation.