Open access
Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy
J. Patel
Nermina Saucier
Hwi M. Gil
Elizabeth G. Schmitz
Marianna B. Ruzinova
Ayah Saffaf
M. Blinder
N. Mehta-Shah
Zachary D. Crees
M. Cooper
O. Zimmerman
Medicine
Abstract
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.