Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy
Patel et al. describe an elderly woman with severe chronic neutropenia caused by mosaic TLR8 gain-of-function. The report broadens a primarily pediatric, male disease spectrum and highlights somatic mosaicism as an important diagnostic consideration in adults with unexplained cytopenia and immune dysregulation.