Agammaglobulinemia

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Antibodies

Definition

Agammaglobulinemia is an inherited disorder in which there are very low levels of protective immune proteins called immunoglobulins. People with this disorder develop repeated infections.

Alternative Names

Bruton's agammaglobulinemia; X-linked agammaglobulinemia

Causes, incidence, and risk factors

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 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 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 to repeated viral infections. Common sites of infection include:

• Gastrointestinal tract
• Lungs
• Skin
• Upper respiratory tract

Symptoms

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

Symptoms include frequent episodes of:

• Bronchitis
• Chronic diarrhea
• Conjunctivitis
• Other respiratory infections
• Pneumonia
• Sinusitis
• Skin infections

Infections typically appear in the first four years of life.

Signs and tests

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

• Flow cytometry to measure circulating B lymphocytes
• IgA and IgM
• IgG
• Immunoelectrophoresis - serum
• Quantitative immunoglobulins (usually measured by nephelometry)

Treatment

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

Intravenous infusions of immunoglobulins (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.

Expectations (prognosis)

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

Complications

• Arthritis
• Autoimmune disorders
• Chronic sinus or pulmonary disease
• Eczema
• Intestinal malabsorption syndromes

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.

References

Azar AE. Evaluation of the adult with suspected immunodeficiency. Am J Med. 2007;120(9):764-768.

Bonilla FA. Update on primary immunodeficiency diseases. J Allergy Clin Immunol. 2006;117(2):S435-S441.

Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-173.

Review Date: 5/6/2008

Reviewed by: Stuart I. Henochowicz, MD, FACP, Associate CLinical Professor of Medicine, Division of Allergy, Immunology, and Rheumatology, Georgetown University Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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