Agammaglobulinemia

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

Causes

Agammaglobulinemia is 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

References

Azar AE. Evaluation of the adult with suspected immunodificiency. Am J Med. 2007;120(9):764-8.

Bonilla FA. Update on primary immunodeficiency diseases. J Allergy Clin Immunol. 2006;117(2 Suppl Mini-Primer):S435-41.

Morimoto Y. Immunodeficiency overview. Prim Care. 2008;35(1):159-73,viii.