Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy. (PubMed, J Hum Immun) - Sep 25, 2026 - "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."
Journal • Hematological Disorders • Neutropenia • Pediatrics • CSF2 • TLR8
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Ayah Saffaf; Elizabeth G Schmitz; Hwi M Gil; Jenny A Patel; Marianna B Ruzinova; Megan A Cooper; Morey Blinder; Neha Mehta-Shah; Nermina Saucier; Ofer Zimmerman; Zachary D Crees
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