Agammaglobulinemia, x-linked

Causes

What gene change causes X-linked agammaglobulinemia?

X-linked agammaglobulinemia is caused by a change in the BTK gene. Genes are segments of DNA found on chromosomes. Genes produce specific proteins that the body needs to grow and work properly. When there is a change in a gene, the protein that the gene produces may be absent or not working properly. The BTK gene produces a protein called Bruton tyrosine kinase. This protein is important in the process of making B cells, which are a type of white blood cell. B cells mature into plasma cells, which produce antibodies. Antibodies are specialized proteins that help to protect the body from bacteria, virus and other foreign substances. When the Bruton tyrosine kinase protein is absent or not working properly, the body cannot make antibodies to fight infections, especially bacterial infections.

References
Show More Content Like This

More Causes Content

How does the gene change cause symptoms in X-linked agammaglobulinemia?

How does the gene change cause symptoms in X-linked agammaglobulinemia?

The BTK gene produces a protein called Bruton tyrosine kinase. Because of a change in the gene, people with X-linked agammaglobulinemia do not produce enough of this protein. This protein is important in the process to create B cells, which are a type of white blood cell. B cells are part of the immune system; they can mature into plasma cells. Plasma cells produce antibodies. When Bruton tyrosine kinase is absent or not working properly, antibodies are not produced. Antibodies are specialized proteins that help to protect the body from germs and microorganisms like bacteria and viruses. Without enough antibodies, the immune system cannot protect the body from these harmful materials. People with X-linked agammaglobulinemia are highly susceptible to developing infections.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me