Tuesday, March 30, 2010

Rare Diseases Of The Immune System

There are two different types of immune diseases in the human body. One type impairs the body from fighting diseases. The other type causes the body to overreact to stimuli, causing organ damage or other serious defects in the body. Immune diseases are very common. Some immune systems diseases are very common and well known, such as AIDS and diabetes Type 1. However, there are also many other immune system diseases that are far less common.








Ataxia Telangiectasia (A-T)


One of the more uncommon immune system diseases is ataxia telangiectasia. This disease is progressive and degenerative in nature. The first signs of it occur around 2 years old and include lack of balance and slurred speech. The disease is also characterized by cerebellar degeneration, immunodeficiency and a sensitivity to radiant energy such as X-rays. People with this disease are also predisposed to cancer.


Autoimmune Polyglandular Syndrome


This immune system disease affects the endocrine system. Little is known about this disease, but doctors do know it's a "rare autosomal recessive disorder that maps to human chromosome number 21." Doctors have determined that a protein product of the autoimmune regulator gene regulates its expression. Mutations of this gene are responsible for its negative functions.


Severe Combined Immunodeficiency


Severe combined immunodeficiency is a group of rare, often fatal, congenital disorders that are characterized by little or no autoimmune response. This disease produces a defect in the white blood cells, which are responsible for the body's ability to fight infection. People with this disease have virtually no way to fight infections caused by bacteria, viruses or fungi. Therefore, these people are continually susceptible to infections such as chicken pox, meningitis and pneumonia. Often, patients with SCID die before their first birthday. Those who live beyond that point must stay away from any infection-causing agent. Since severe isolation is critical, this disorder is often referred to as "bubble boy" disease.


DiGeorge Syndrome


DiGeorge syndrome is a congenital immune disease caused by a large deletion in chromosome 22. The deletion results in the absence of several genes in people who are affected with DGS. Often, the symptoms that are present in DGS patients depend on the amount of genetic material that is lost or otherwise missing. The symptoms tend to vary between affected individuals. However, some common traits among people who have the disease are recurrent infections, heart defects and characteristic facial features.


Immunodeficiency with Hyper IgM (HIM)


This disease is caused by the production of too much IgM antibody or an inability to produce enough IGH and IgA. Individuals with this disease are susceptible to frequent bacterial infections. They are also at a greater risk for autoimmune disorders and cancer at an early age. Although HIM can be treated with frequent IV treatments that replace the missing antibodies, the only way long-term immunity can be achieved is through a bone marrow transplant.

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