Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders.

ABSTRACT: In this article, we will share lessons that patients with gain-of-function defects in Toll-like receptor 8 (TLR8-GOF) can teach us about the interface between bone marrow failure (BMF) disorders and inborn errors of immunity (IEI), subsequently referred to as "Interface Disorders". TLR8-GOF is a relatively young entity (from a discovery standpoint) that-through both similar and dissimilar disease characteristics-can increase our understanding of interface disorders, for example, as it pertains to pathophysiology, the genetic mechanism of disease, and related diagnostics and therapeutics. From a genetics point of view, TLR8-GOF joins a growing list of (interface) disorders that can cause disease both with germline and somatic (mosaic) genetic variants. This not only has repercussions for th

SUBMITTER: Bleesing J 

PROVIDER: S-EPMC9479092 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature