Encyclopedia of Genetic Disorders | Bruton agammaglobulinemia

Definition

Bruton agammaglobulinemia is an X-linked genetic condition caused by an abnormality in a key enzyme needed for proper function of the immune system. People who have this disorder have low levels of protective antibodies and are vulnerable to repeated and potentially fatal infections.

Description

An integral aspect of the body's ability to resist and fight off infections by microorganisms (bacteria, viruses, parasites, fungi) is the immune system. The immune system is comprised of specialized cells whose function is to recognize organisms that are foreign to the body and destroy them. One set of specialized cells used to fight infection are the B cells. B cells circulate in the bloodstream and produce organism-fighting proteins called antibodies.

Antibodies are made of...