The following is a case study of cohort of patients who were suffering from rare autoimmune disease, Fissure Syndrome . Fissure Syndrome is due to the mutation which effects immune functioning and which causes depletion in blood-brain barrier which does not allow the blood flow into the brain or nerve cell. One result of fissure syndrome is that the person can have frequent blackout and bleeding from nose. For many people the conditions can be severe as well as can prove fatal. The client was diagnosed and given an assessment with the goal of determining the factors. Through a process of discovery, the client's history finally revealed that there was a mutation in single gene due to environmental conditions . . However, through …show more content…
Mutations can have either no effect , product of gene can be altered , or the prevention of gene from functioning completely or partially. Mutations can also occur in region which are nongenic. As the mutation has such a damaging effect that there is a mechanism called DNA repair that corrects the mutation to its original state.
It is an autoimmune disease which is due to mutation in the gene that is caused by the environmental conditions . This mutation caused CVID which impaired the immune system and make other cell or organ vulnerable of damage. In CVID, there are many genes associated with it and due to one gene there was a dysfunctioning in B cells due to which antibodies accumulate and work against the healthy organ. B cells are present in white blood cells.
In this disease due to abnormal accumulation of antibodies there was damage of Blood-Brain Barrier that protects the brain cells and separates it from the blood . The antibodies started accumulating against the blood brain barrier due to which there was a depletion in the barrier.
Symptoms The person will have severe headache and they can also have nausea and can even have blackout. People who are already on a prescription medication will face severe side effects like internal bleeding. Disease can also be fatal.