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In this Review, Gil and Cooper review the molecular, immunologic, and clinical features of TLR8 gain-of-function syndrome, and integrate knowledge of key structural components of the TLR8 protein.
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.
It is found that in patients with STAT3 GOF, CD8+ T cells exist in an activated state and a dysregulated purinergic signaling axis plays a key role in CD8+ T cell dysregulation in STAT3 GOF and may have implications for other rare monogenic immune disorders and common inflammatory disorders.
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