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Agammaglobulinemia: autoimmune disease rare and devastating
Agammaglobulinemia () or lack of blood Gamaglobolin, is a rare genetic disease that is transmitted in families with low levels of immune. Are immune protective proteins of the immune system. And low levels of these antibodies make it more susceptible to infection person. It is transmitted from father to son, and it was one of the first disease of the immune system that have been identified than ever.
What causes agammaglobulinemia?
This disease is the result of a genetic defect in the X chromosome that interferes with the body's ability to manufacture antibodies. It is known that genes on "Bruton tyrosine kinase" or BTK, and discovered for the first time in 1993.
Happens agammaglobulinemia often in men than in women because of the boom it involves X Men's X chromosome only has a single chromosome Therefore, one flaw in the gene can lead to disease and this is called "inheritance linked to X" chromosome. And two X chromosomes of women can be carriers of the agammaglobulinemia. In women, it can be normal copy of the gene to hide defects and problems caused by a mutation. It must be my father's gene transfer boom woman her.
There have been cases where they have families not have associated with this pattern is possibly due to a new chromosome -tefrh. Families also may be too small to detect any clear pattern.
Those suffering from agammaglobulinemia repeatedly tend to develop infections caused by bacteria such as Haemophilus influenza, Staphylococcus. And it includes the most common infection that affected areas. Upper respiratory tract, joints, lungs, skin and digestive system.
What are the symptoms?
Agammaglobulinemia Symptoms usually appear in children between six and nine months of age. However, some children do not show symptoms of the disease so as to be between three and five years of age. Children usually show signs of illness before the girls.

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Created on Aug 28th 2015 00:30. Viewed 1,073 times.


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