Common Variable Immunodeficiency
What is Common Variable Immunodeficiency?
Common Variable Immunodeficiency is a common primary immunodeficiency in which the body is susceptible to infection due to low production of serum immunoglobulins and antibodies. The body lacks plasma cells and B lymphocytes that produce antibodies and as a result, affected patients will have low levels of immunoglobulin G (IgG), immunoglobulin A (IgA), and/or immunoglobulin M (IgM). Without antibodies, many patients experience recurrent infections that may lead to chronic lung disease. Around 25% of CVID patients develop an autoimmune disorder.
What is the prevalence of Common Variable Immunodeficiency?
CVID is a common immunodeficiency that affects 1 in 25,000 people worldwide.
How is Common Variable Immunodeficiency diagnosed?
Individuals can be tested for CVID through laboratory tests that measure serum immunoglobulin levels and check that the B lymphocytes and T lymphocytes are functioning normally. Others tests including a biopsy and histogram can check for abnormalities, and gather information on lymph nodes.
Is there any specific gene/pathway in Common Variable Immunodeficiency that has been identified?
Mutations in at least 10 genes have been associated with CVID, the most common of which is the TNFRSF13B gene that is responsible for the maturation of B cells. B cells are specialized white blood cells that produce antibodies against disease. Other genes associated with CVID include the CD19, CR2, and LRBA genes. Inheritance of CVID may be autosomal recessive or autosomal dominant, or may be an interaction of both environmental and genetic factors.
How is Common Variable Immunodeficiency treated?
There are a variety of treatments available for CVID, the most common of which is Ig replacement therapy that stops recurrent infections and reduces arthritic symptoms. Dose depends on the severity of the condition. Cyclosporin A can also be taken to treat CVID and lymphoid interstitial pneumonitis. Upon infection, antimicrobial therapy can be initiated, and specific therapy may be necessary to target one organ system affected.
Are there any clinical trials underway for Common Variable Immunodeficiency?
Yes, the National Institute of Allergy and Infectious Diseases (NIAID) is currently recruiting patients to immune regulation in patients with CVID. More information on the clinical trial can be found here.
How can RareShare be helpful to Common Variable Immunodeficiency patients and families?
The CVID Rareshare community has 217 members. There are currently one active discussion underway, helping to connect patients, health workers, caregivers and families interested in CVID and providing them continual access to community resources.
RareShare, MGCI Cancer Society and RG Chapter