| Causes a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial disease |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
Carrier of an immunodeficiency mutation
|
| (T;T)
|
3
|
Causes a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial disease
|
This genotype causes a lack of ISG15. This can cause a number of issues such as calcium deposits forming in the basal ganglia, a central part of the brain. However, this has not been shown to cause any mental defects. This genotype also causes auto-inflammation of the IFNA/IFNB interferon's which can lead to other diseases. Finally, this genotype also makes the individual more prone to mycobacterial diseases such as tuberculosis and leprosy. Lymphadenopathy also occurs after the BCG vaccination, a common vaccination to treat tuberculosis. The one potential positive is that the increased production of IFNA/IFNB leads to increased immunity to viruses the interferon provides immunity to.
