Alternate Names: Bruton agammaglobulinemia; X-linked agammaglobulinemia
Causes and Risks: Agammaglobulinemia is inherited as an X-linked recessive trait in which an inborn error blocks B-cell differentiation. It causes the body to produce 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 Hemophilus influenza, pneumococcus infections, staphylococcus infections and repeated viral infections. The upper respiratory tract, lungs, and skin are common sites of infection. The incidence is approximately 1 out of 100,000 people.
Prevention: Genetic counseling may be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.
Symptoms:
- family history of agammaglobulinemia (or other immune disorder)
- frequent infections, may begin early or have delayed onset.
Frequent episodes of:Note: Frequent infection may begin early or later in life.
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.
Intramuscular injections of immune serum globulin (gamma globulin injections) 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 gammaglobulin are needed for severe infections.
Antibiotics are available for the treatment of bacterial infections.
Prognosis: Treatment with immune globulins has improved the health of people with agammaglobulinemia. Without treatment, most severe infections are fatal.
Complications:
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.
