NEW YORK – A genotype-driven study has implicated somatic mutations in a gene involved in protein ubiquitylation in a severe adult-onset male autoinflammatory disorder. Since the mutations are only found in a subset of patients' blood cells, the disorder, which currently has no cure, might be treatable with a bone marrow transplant.
The results also highlight that somatic mutations not only play a role in cancer but can also cause other disorders, in particular inflammatory diseases.