Researchers found biallelic mutations in the DEF6 gene in patients with an immune disorder and systemic autoimmunity, shedding light on how immune responses can malfunction.
The study revealed that these mutations disrupt the regulation of the CTLA-4 protein's movement to the surface of T cells, which is crucial for controlling immune responses.
The findings suggest that targeting DEF6 could be a potential strategy for treating autoimmune diseases and cancer, as one patient responded well to CTLA-4-Ig treatment.