Agammaglobulinemia

Definition

Alternative Names

Causes

Agammaglobulinemia is rare disorder that primarily affects males, because it is inherited as an X-linked recessive trait (like hemophilia). It is the result of a genetic abnormality that blocks the development of normal, mature B-lymphocyte cells. As a consequence, the body produces very little (if any) gamma globulin (IgG) and other immunoglobulins in the bloodstream. Immunoglobulins are molecules that play a significant role in the immune response, which protects against illness and infection.

In the absence of protective immunoglobulins, affected individuals develop repeated infections. People with this disorder are particularly susceptible to bacterial infections caused by Hemophilus influenzae, pneumococcus (Streptococcus pneumoniae), and staphylococci as well as repeated viral infections. The upper respiratory tract, lungs, and skin are common sites of infection.