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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
Sep 2026 · Journal of human immunity · Vol 2 · 1 citation · 4 references
Medicine

TL;DR

An elderly woman with severe chronic neutropenia caused by mosaic TLR8 gain-of-function is described, which broadens a primarily pediatric, male disease spectrum and highlights somatic mosaicism as an important diagnostic consideration in adults with unexplained cytopenia and immune dysregulation.

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.

DOI PubMed Semantic Scholar
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