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.
- Increased expression of Tumor Necrosis Factor
- Increased expression of Interleukin 6
- Increased expression of Interleukin 8
- Increased expression of Interferon Gamma
- Elevated levels of Serum Concentrations of C Reactive Protein
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)