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Agammaglobulinemia is an inherited disorder in which there are very low levels of protective immune system proteins called immunoglobulins. People with this disorder repeatedly develop infections.
Bruton's agammaglobulinemia; X-linked agammaglobulinemia
Agammaglobulinemia is a rare disorder that mainly affects males. It is the result of a genetic abnormality that blocks the development of normal, mature immune system cells called B lymphocytes.
As a result, the body produces very little (if any) immunoglobulins in the bloodstream. Immunoglobulins play a major role in the immune response, which protects against illness and infection.
Without protective immunoglobulins, people with agammaglobulinemia repeatedly develop infections. People with this disorder are particularly susceptible to bacterial infections caused by Haemophilus influenzae, pneumococci (Streptococcus pneumoniae), and staphylococci, as well as to repeated viral infections. Common sites of infection include:
People with this condition may have a family history of agammaglobulinemia (or another immune disorder).
Symptoms include frequent episodes of:
Infections typically appear in the first 4 years of life.
Other symptoms include:
The disorder is confirmed by laboratory measurement of blood immunoglobulins.
The goal of treatment is to reduce the number and severity of infections, and to provide genetic counseling to affected families.
Receiving immunoglobulins (IVIG) through a vein (intravenously) helps 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 often needed to treat bacterial infections.
Treatment with IVIG has greatly improved the health of people with agammaglobulinemia. Without treatment, most severe infections are fatal.
Call for an appointment with your health care provider if:
Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders.
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Ballow M. Primary immunodeficiency diseases. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 271.
Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.