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Agammaglobulinemia is an inherited disorder characterized by very low levels of protective immunoglobulins. Persons with this disorder develop repeated infections.

Alternative Names

Bruton's agammaglobulinemia; X-linked agammaglobulinemia


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 Haemophilus influenzae, pneumococcus (Streptococcus pneumoniae), and staphylococci as well as repeated viral infections. The upper respiratory tract, lungs, and skin are common sites of infection.


The person may have a family history of agammaglobulinemia (or other immune disorder).

Symptoms include frequent episodes of:

Infections typically appear in the first 4 years of life.

Exams and Tests

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

  • Immunoelectrophoresis - serum
  • Quantitative immunoglobulins (nephelometry)
  • IgG usually less than 200 mg/dL
  • IgA and IgM almost unmeasurable
  • Flow cytometry to measure circulating B lymphocytes


The goal of treatment is to reduce the number and severity of infections as well as provide genetic counseling to affected families.

Intravenous infusions of immunoglobulins (gamma globulin, IVIG) help boost the immune system by providing the body with the antibodies that are decreased or missing. Routine treatment with IVIG is central to the treatment of this disorder.

Antibiotics are frequently necessary for the treatment of bacterial infections.

Outlook (Prognosis)

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

Possible Complications

When to Contact a Medical Professional

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.


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

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