Jenny A Patel, Nermina Saucier, Hwi M Gil, Elizabeth G Schmitz, Marianna B Ruzinova, Ayah Saffaf, Morey Blinder, Neha Mehta-Shah, Zachary D Crees, Megan A Cooper, Ofer Zimmerman
{"title":"Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy.","authors":"Jenny A Patel, Nermina Saucier, Hwi M Gil, Elizabeth G Schmitz, Marianna B Ruzinova, Ayah Saffaf, Morey Blinder, Neha Mehta-Shah, Zachary D Crees, Megan A Cooper, Ofer Zimmerman","doi":"10.70962/jhi.20260113","DOIUrl":null,"url":null,"abstract":"<p><p>We report severe neutropenia in a 77-year-old female with mosaic TLR8 gain-of-function due to a novel variant. Treatment with ruxolitinib, prednisone, and GM-CSF resulted in clinical improvement. This case expands the phenotypic spectrum beyond pediatric and male cohorts, highlighting mosaicism in late-onset immune dysregulation.</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/PMC13603065/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of human immunity","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.70962/jhi.20260113","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/9/24 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We report severe neutropenia in a 77-year-old female with mosaic TLR8 gain-of-function due to a novel variant. Treatment with ruxolitinib, prednisone, and GM-CSF resulted in clinical improvement. This case expands the phenotypic spectrum beyond pediatric and male cohorts, highlighting mosaicism in late-onset immune dysregulation.
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