All articles tagged with #thyroid autoimmunity
Ultra-accurate sequencing shows somatic mutations in immune cells, especially B cells, can disable immune brakes and drive thyroid autoimmune diseases (Hashimoto’s and Graves’). This polyclonal evolution suggests a new mechanism beyond inheritance and hints at precision therapies that target mutant cell clones rather than broad immune suppression.
Using whole-exome sequencing and NanoSeq, researchers detected numerous B-cell clones with loss-of-function mutations in HVEM (TNFRSF14) and PD-L1 (CD274) in inflamed autoimmune thyroid tissue. In highly inflamed samples there are tens to hundreds of independent mutant clones, often with multiple hits and occasional biallelic loss, localizing to self-reactive B cells and supporting a model in which somatic immune-regulatory mutations contribute to thyroid autoimmunity.