An inherited disorder characterized by very low levels of protective immunoglobulins; affected people develop repeated infections.

Alternative Names

Bruton's agammaglobulinemia; X-linked agammaglobulinemia

Causes, incidence, and risk factors

Agammaglobulinemia is rare disorder that only affects male as it is inherited as an X-linked recessive trait (like hemophilia). It is the result of a genetic abnormality that blocks normal B-lymphocyte differentiation (development into normal mature cell). 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.

Signs and tests

The disorder is confirmed by laboratory measurement of serum immunoglobulins. Tests include:

Treatment

The goal of treatment is to reduce the number and severity of infections as well as provide genetic counseling to affected families. Intramuscular or intravenous injections of immune serum globulin (gamma globulin, IVIg) help to boost the immune system. Infusions of blood plasma into a vein gives a quick supplement to the immune system (plasma contains antibodies , including IgG , IgM , and IgA ). High doses of high titer gamma globulin are needed for severe infections. Antibiotics are frequently necessary for the treatment of bacterial infections.

Expectations (prognosis)

Treatment with immune globulins has improved the health of people with agammaglobulinemia. Without treatment, most severe infections are fatal.

Complications

Calling your health care provider

Call for an appointment with your health care provider if you or your child has experienced frequent infections. Call for an appointment with your health care provider if you have a family history of agammaglobulinemia or other immunodeficiency disorder and you are planning to have children -- ask the provider about genetic counseling.

Prevention

Genetic counseling may be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders .