Immunological Manifestations of UBA 1 Mutations and VEXAS
Specific shared gene expressions were noticed through an extensive study of peripheral blood samples obtained from these individuals. These gene expressions were responsible for the activation of a plethora of innate immune pathways, and was also responsible for the activation of inflammatory factors within these pathways. The findings from David D Beck et al’s preliminary research have been summarised within this section for easy referral.
The observations from these patients (immunological and physical) met the diagnostic criteria for a variety conditions such as Myelodysplastic Syndrome, Giant Cell Arteritis, etc. (4) (1)