Physical Manifestations of UBA 1 Mutations and VEXAS
Since the gene for UBA 1 is present on the X Chromosome, it is therefore
justified that the frequency of VEXAS is substantially more in males as
compared to females. Individuals who presented with these mutations
displayed certain akin clinical features:
- Fever
- Ear and Nose Chondritis
- Pulmonary Infiltrate
- Skin Lesions
- Venous Thromboembolism
- Abnormalities in Lung Function
- Chronic Inflammation of Lungs
- Inflammation of Cartilage
- Atypical Vacuoles in Myeloid Cells (4) (1) (5)
In addition to these, hematologic aberrations were also reported:
- Macrocytic Anaemia
- Thrombocytopenia
- Myeloid Dyspoiesis (1)
Please note that the primary source of the data for this section is
David D. Beck et al’s reporting in The New England Journal of
Medicine.