Common Variable Immune Deficiency (CVID)
What is common variable immune deficiency?
Common variable immune deficiency (CVID) is a disease that impairs the immune system. People with this disease are susceptible to bacteria and viruses, specifically in the lungs, sinuses, and ears.
This disease comes in many different forms, all dependent on what genetic variation one has. Symptoms can vary between those affected, even if they have the same type. It is estimated to affect one of every 25,000-50,000 people throughout the world.
What are the symptoms of common variable immune deficiency?
Recurrent infections are a major symptom of this disease. Pneumonia and infections of the lungs, sinuses, and ears are the most common. These infections have the potential to cause chronic lung disease.
Inflammation of the gastrointestinal tract is another symptom, which can lead to weight loss and diarrhea. Immune cells can also accumulate in organs, causing swelling. This usually happens in the spleen and lymph nodes.
About ¼ of those with CVID also have an autoimmune disorder. A heightened risk of cancers is another symptom of this condition, specifically non-Hodgkin lymphoma and gastric cancer.
Symptoms tend to appear between childhood and adulthood.
What causes common variable immune deficiency?
In the majority of cases of CVID, the cause is unknown. While it is believed to be a combination of environmental and genetic factors, medical professionals are unsure which genes and which triggers cause this condition. It is suspected that genes involved with B cells are involved.
10% of cases have a known cause. 13 genes have been associated with these cases, with the most commonly affected being the TNFRSF13B gene, which has to do with the function of B cells.
Everybody with CVID has a shortage of at least two antibodies: immunoglobulin G and immunoglobulin A. Some also lack immunoglobulin M.
The majority of cases of this condition are sporadic, as there is no family history of CVID. In rare cases, it is inherited in an autosomal recessive pattern. A small minority of cases are passed down in an autosomal dominant pattern.
How is common variable immune deficiency diagnosed?
Doctors will first perform a physical exam, evaluate the patient’s medical and family history, identify characteristic symptoms, and look for a pattern of recurrent infections. The next step is lab tests. The main test that is performed is finding the immunoglobulin concentration. B cell levels may also be taken. Another method of diagnosis is through a biopsy of the lymph nodes.
What are the treatments for common variable immune deficiency?
A team of specialists should be put together for the best treatment of CVID.
The most common form of treatment is regular immunoglobulin therapy, which can prevent infections. Other medications, such as antihistamines, may be needed to treat the adverse effects of immunoglobulin therapy.
Infections should be diagnosed and treated quickly. People with CVID should also be monitored for infections to ensure that they receive the best treatment.