Chediak Higashi Syndrome Research Paper

Chediak-Higashi syndrome is a Primary human immunodeficiency disease which is caused by genetic predisposition in an autosomal recessive pattern, where this describes any chromosome other than sex chromosomes where both pairs of the gene in each cell have underwent mutation. This disorder itself is a rare one, where about 200 cases of the condition have been reported worldwide. The parents of the person with this type of condition, autosomal recessive, carry one copy of the mutated gene, but normally don’t show signs and symptoms of the condition transcribed to the child. This syndrome affects chiefly the immune system, where the disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with …show more content…
The defect prevents phagocytes from destroying what they engulf and Giant Granules of undigested material builds up. This causes recurrent infection (impaired phagocyte function), oculocutaneous albinism (impaired melanin trafficking) & peripheral neuropathy (impaired axonal transport). A copious amount of individuals who develop this syndrome have issues with blood coagulation and clotting, with resultant easy bruising and abnormal bleeding. If the disease is not accurately treated in children, most children with Chediak-Higashi syndrome come to a phase in the disorder called the “accelerated phase” which is thought to be triggered by a viral infection. In this stage white blood cells divide uncontrollably and invade many of the bodily organs. Fever, episodes of abnormal bleeding, a myriad of infections and organ failure accompany this phase. Those individuals who survive to see adulthood, can also have implications to the nervous system causing motor problems (ataxia), accompanied with seizures, less noticeable changes in pigmentation, and are less likely to have reoccurring severe