CVID

The immune deficiency that Audra has recently been diagnosed with is:

Common Variable Immune Deficiency

Common Variable Immune Deficiency (CVID) is a frequently diagnosed immunodeficiency characterized by low levels of serum immunoglobulins and antibodies, which causes an increased susceptibility to infection.  People with CVID often have infections that are described as recurrent, persistent, unusual or severe.  While CVID is thought to be due to genetic defects, the exact cause of the disorder is unknown in the large majority of cases.  Compared to other human immune defects, CVID is a relatively frequent form of primary immunodeficiency, found in about 1 in 25,000 persons; this is the reason it is called “common.” The degree and type of deficiency of serum immunoglobulins, and the clinical course, varies from patient to patient, hence, the word “variable.”  Patients with CVID also have an increased incidence of autoimmune or inflammatory manifestations and an increased susceptibility to cancer when compared to the general population.  Both males and females may have CVID.  In the majority, the diagnosis is not made until the third or fourth decade of life. However, about 20% of patients have symptoms of the disease or are found to be immunodeficient in childhood.

Diagnostic Criteria:

• recurrent infections (especially involving the ears, sinuses and lungs)
• digestive system problems (malabsorption, diarrhea, poor growth)
• low immunoglobulin leves (IgG, IgA and sometimes IgM)
• low antibody responses to vaccines 

Treatment:

People with CVID receive intravenous (through the vein) immunoglobulin replacement therapy every three to four weeks or subcutaneous (just under the skin) immunoglobulin replacement therapy every week to restore normal immunoglobulin levels.  The immunoglobulin given by either of these methods provides antibodies from about 60,000 healthy donors each time it is given.  Many patients need preventive antibiotics as well.

Audra has:

• low IgG and IgA levels
• loss of antibody response to vaccines (diptheria, tetanus, measles, pneumococcal)
• digestive problems:  malabsorption, diarrhea, failure to thrive, villi blunting on endoscopy
• recurrent ear infections resulting in ruptured ear drum and hearing loss
• usually severe UTI's resulting in pyelonephritis and kidney abcesses, with a severe inflammatory response (very high CRP and ESR)
• unusual fungal pneumonia when she was an infant in China