Mosaic #TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapy. New report from Jenny A. Patel, Megan A. Cooper @macattacklab.bsky.social, Ofer Zimmerman and colleagues @washumedicine.bsky.social:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity

In @jhumimmunity.org, Patel, Cooper, Zimmerman et al. describe an elderly woman w/ severe chronic #neutropenia caused by mosaic #TLR8 GOF, broadening a primarily pediatric, male disease spectrum & highlighting somatic mosaicism as an important diagnostic consideration rupress.org/jhi/article/...

Patel, @macattacklab.bsky.social, Zimmerman et al. describe an elderly woman w/ severe chronic #neutropenia caused by mosaic #TLR8 GOF, broadening a primarily pediatric, male disease spectrum & highlighting somatic mosaicism as an important diagnostic consideration rupress.org/jhi/article/...