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Common Variable Immune Deficiency

Question from Walt

A relative has been diagnosed with “common variable immune deficiency”, after losing 100 pounds with chronic diarrhea and after countless tests. What is it; how is it treated; who/where are the experts?

Dear Walt:

Common variable immunodeficiency is one of several genetically based immune deficiency syndromes (as opposed to an acquired immunodeficiency such as AIDS). The syndrome is characterized by low gamma globulins, recurrent bacterial infections, and increased incidence of malignancy. This is a rare syndrome and is estimated to occur in approximately 1:100,000 individuals.

The cause (etiology) has not been fully determined, but there is clearly a genetically (heredity)-based susceptibility. This genetic defect may allow a chronic viral infection to occur causing sustained damage to the immune system.

What is certain is that these patients have lymphocytes which are incapable of becoming mature immunoglobulin secreting plasma cells. Immunoglobulins are essential to fight a variety of infections. Sinus, ear, and lung infections are the most common, but gastrointestinal, urinary tract, and other organs can also be affected.

Treatment consists of antibiotic therapy for infections and replacement of immunoglobulins. Immunoglobulin concentrate is administered intravenously at approximately monthly intervals.

Studies into this syndrome are on-going in many centers. A patient’s physician might be able to arrange a referral to one or more centers based on specific needs and desires.

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