The presenting features of most patients with CVID are recurrent infections involving the ears, sinuses, nose, bronchi and lungs. When the lung infections are severe and occur repeatedly, permanent damage to the bronchial tree may occur and a chronic condition of the bronchi (breathing tubes) develops, causing widening and scarring of these structures. This condition is known as bronchiectasis.
Patients with CVID may also develop enlarged lymph nodes in the neck, the chest or abdomen. The specific cause is unknown, but enlarged lymph nodes may be driven by infection, immune dysregulation, or both. Similarly, enlargement of the spleen is relatively common, as is enlargement of collections of lymphocytes in the walls of the intestine called Peyer’s patches.
Although patients with CVID have a depressed antibody response and low levels of immunoglobulin in their blood (hypogammaglobulinemia), some of the antibodies that are produced by these patients may attack their own tissues (autoantibodies). These autoantibodies may attack and destroy blood cells (e.g. red cells, white cells or platelets). Although, most individuals with CVID present first with recurrent bacterial infections, in about 20% of cases the first manifestation of the immune defect is a finding of very low platelets in the blood, or perhaps severe anemia due to destruction of red cells. The autoantibodies may also cause arthritis or endocrine disorders, such as thyroid disease.
Some patients with CVID report gastrointestinal complaints such as abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss. Careful evaluation of the digestive organs may reveal malabsorption of fat and certain sugars. If a small sample (biopsy) of the bowel mucosa is obtained, characteristic changes may be seen. These changes are helpful in diagnosing the problem and treating it. In some patients with digestive problems, a small parasite called Giardia lamblia has been identified in the biopsies and in the stool samples. Eradication of these parasites by medication may eliminate the gastrointestinal symptoms.
Finally, patients with CVID may have an increased risk of cancer, especially cancer of the lymphoid system, skin and gastrointestinal tract.
Immunoglobulin replacement therapy combined with antibiotic therapy has greatly improved the outlook of patients with CVID. The aim of the treatment is to keep the patient free of infections and to prevent the development of chronic lung disease. The outlook for patients with CVID depends on how much damage has occurred to their lungs or other organs before diagnosis and treatment with immunoglobulin replacement therapy and how successfully infections can be prevented in the future by using immunoglobulin and antibiotic
Five distinct clinical phenotypes have been delineated for common variable immunodeficiency (CVID): no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy. In any patient with a past medical history of CVID, 3 complications must be considered: recurrent infections, autoimmune phenomena, and malignancy
The goals of pharmacotherapy for common variable immunodeficiency (CVID) are to reduce morbidity and prevent complications. Treatment with rapamycin has been suggested, but this therapy awaits proper evaluation. Rituximab has been used to treat associated hemolytic anemia and thrombocytopenia. Additionally, Lin et al reported on the treatment of CVID-associated cutaneous granuloma using etanercept.
In patients with CVID, the risk of certain malignancies is high.
Lymphomas of a B-cell phenotype are of particular concern.
Malignancy is most likely associated with the Epstein-Barr virus.
The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals.
Malignant melanomas are reported.
- A 20-year survival rate is 64% for male patients and 67% for female patients.
- In general, the expected survival rate for male and female patients is 92% and 94%, respectively.
- Death may result from various causes (see Complications