OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders

Common Variable Immunodeficiency (CVID) is a group of immune system disorders where the body does not produce enough protective antibodies (immunoglobulins). This means people with CVID have difficulty fighting off infections from bacteria, viruses, and other germs. The term 'genetic common variable immunodeficiency phenotype and related disorders' refers to forms of CVID where a specific genetic cause has been identified. This Orphanet entry is marked as obsolete, meaning it has been reorganized or reclassified into more specific disease categories as our understanding of the genetic causes has improved. People with genetic forms of CVID typically experience frequent and recurring infections, especially of the lungs, sinuses, and ears. They may also develop autoimmune problems (where the immune system attacks the body's own tissues), enlarged lymph nodes, digestive issues, and in some cases, an increased risk of certain cancers, particularly lymphoma. Symptoms can range from mild to severe and may begin at any age, though many people first notice problems in childhood or young adulthood. The main treatment for CVID is immunoglobulin replacement therapy, which provides the antibodies the body cannot make on its own. This treatment is given either through an IV (intravenous) or under the skin (subcutaneous) on a regular schedule. Antibiotics are also commonly used to treat and prevent infections. With proper treatment, many people with CVID can lead active and fulfilling lives, though lifelong monitoring and management are needed.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific genetic cause has been identified for my CVID, and what does it mean for my treatment?,How often will I need immunoglobulin replacement therapy, and can I do it at home?,What signs of infection should I watch for that would need urgent medical attention?,Should my family members be tested for the same genetic change?,What screening tests do I need on a regular basis to watch for complications like lung damage or cancer?,Are there any targeted therapies or clinical trials that might be appropriate for my specific genetic form of CVID?,What vaccines are safe for me, and which ones should I avoid?

Common questions about OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders