Common variable immunodeficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
D83.0 D83.1 D83.2 D83.8 D83.9
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
CVID; Common variable hypogamma-globulinemia; Hypogamma-globulinemia, acquired;
Congenital and Genetic Diseases; Immune System Diseases; Rare Cancers
• Low levels of
• Recurrent infections especially of the lungs and digestive systems
• Autoimmunity (body attacks healthy
• Liver involvement
• Increased risk for malignancy
About 20-30% of people with CVID will develop autoimmunity, and about 10% of people with CVID will have liver involvement.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Short and broad skull
|Chronic otitis media||
Chronic infections of the middle ear
Decreased immune function
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the liver||
[ more ]
Permanent enlargement of the airways of the lungs
|Elevated hepatic transaminase||
High liver enzymes
Swollen lymph nodes
Red or purple spots on the skin
Increased spleen size
|5%-29% of people have these symptoms|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy
[ more ]
Cancer of lymphatic system
|Neutropenia in presence of anti-neutropil antibodies||0001904|
|Posterior pharyngeal cleft||0006783|
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
Inflammation of blood vessel
|Percent of people who have these symptoms is not available through HPO|
Low B cell count
|Decreased circulating IgA level||0002720|
|Decreased circulating IgG level||0004315|
|Decreased circulating total IgM||0002850|
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|Recurrent otitis media||
Recurrent middle ear infection
At least 20 different
There are multiple forms of Ig replacement therapy available and people with CVID should speak to their health care providers to determine which therapy may be best for their situation.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis include other causes of hypogammaglobulinemia including loss of gammaglobulins via the intestine or urine, hematological malignancies, viral infections or drug-induced loss of B-cell function.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Australasian Society of Clinical Immunology and Allergy (ASCIA)
PO Box 450
Balgowlah NSW 2093
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The Immune Deficiency Foundation has an information page on this topic. Click on the link above to view the information page.
- Genetics Home Reference (GHR) contains information on Common variable immunodeficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Common variable immunodeficiency. Click on the link to view a sample search on this topic.
- Common variable immune deficiency. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency.
- Song J. Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC. Common variable immunodeficiency and liver involvement. Clin Rev Allergy Immunol. Dec 2018; 55(3): 340-51. Dec 2018; 55(3):340-51. https://www.ncbi.nlm.nih.gov/pubmed/28785926.
- Common variable immune deficiency. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/common-variable-immune-deficiency/.
- Ameratunga R, Lehnert K, Woon ST, Gillis D, Bryant VL, Slade C, Steele R. Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing. Clin Rev Allergy Immunol. Apr 2018; 54(2):261-268. https://www.ncbi.nlm.nih.gov/pubmed/29030829.
- Ameratunga R1, Woon ST, Gillis D, Koopmans W, Steele R. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol. 2013 Nov;174(2):203-11. Nov 2013; 174(2):203-11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828823/.
- Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999; 93:190-197. https://www.ncbi.nlm.nih.gov/pubmed/10600329.
- Karin Engelhardt, Bodo Grimbacher, P Herholz. Common Variable immunodeficiency. Orphanet. June, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572.