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Common variable immunodeficiency

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Other Names:
CVID; Common variable hypogamma-globulinemia; Hypogamma-globulinemia, acquired; CVID; Common variable hypogamma-globulinemia; Hypogamma-globulinemia, acquired; Immunoglobulin deficiency, late-onset; Common variable immune deficiency; Idiopathic immunoglobulin deficiency; Primary antibody deficiency; Primary hypogammaglobulinemia See More
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Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body.[1] This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract.[2][3] Symptoms most commonly begin in early adulthood but can occur at any age. While in most cases the cause of CVID is unknown, a genetic change has been found in about one-third of cases.[4] This condition is diagnosed based on the symptoms, specific laboratory testings, and exclusion of other disorders. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections.[2][3] The long term outlook for people with CVID varies depending on the severity of the symptoms and any underlying conditions.[2]
Last updated: 4/18/2019
The symptoms of common variable immunodeficiency (CVID) may be different from person to person. Some people may be more severely affected than others, even people who have the same form. Not everyone with common variable immunodeficiency will have the same symptoms.

The most common signs and symptoms of CVID include [2][3]:

• Low levels of proteins that help the immune system work (immunoglobulins)
• Recurrent infections especially of the lungs and digestive systems  
• Autoimmunity (body attacks healthy organs and tissues)
• 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.[2]

Last updated: 4/18/2019

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Autoimmune thrombocytopenia 0001973
Brachycephaly
Short and broad skull
0000248
Chronic otitis media
Chronic infections of the middle ear
0000389
Decreased circulating antibody level 0004313
Immunodeficiency
Decreased immune function
0002721
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Pneumonia 0002090
Recurrent bronchitis 0002837
30%-79% of people have these symptoms
Anal atresia
Absent anus
0002023
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Elevated hepatic transaminase
High liver enzymes
0002910
Hemolytic anemia 0001878
Lymphadenopathy
Swollen lymph nodes
0002716
Purpura
Red or purple spots on the skin
0000979
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Arthralgia
Joint pain
0002829
Emphysema 0002097
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Gastrointestinal stroma tumor 0100723
Lymphoma
Cancer of lymphatic system
0002665
Neutropenia in presence of anti-neutropil antibodies 0001904
Posterior pharyngeal cleft 0006783
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
B lymphocytopenia
Low B cell count
0010976
Conjunctivitis
Pink eye
0000509
Decreased circulating IgA level 0002720
Decreased circulating IgG level 0004315
Decreased circulating total IgM 0002850
Diarrhea
Watery stool
0002014
Hepatomegaly
Enlarged liver
0002240
Impaired T cell function
T-cell dysfunction
0005435
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] 		0002718
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent pneumonia 0006532
Recurrent sinusitis 0011108
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Last updated: 7/1/2020
Common variable immunodeficiency (CVID) is thought to be the result of a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown.[1][4]

At least 20 different genes have been associated with CVID.[4] Some families with this condition have a gene mutation that has not yet been found in any other family. Genes associated with CVID are generally involved in the development and function of immune system cells (B cells) which help protect against infection.
Last updated: 4/18/2019
Most cases of common variable immunodeficiency are sporadic and occur in someone with no family history of the condition. Some cases of CVID are inherited in families and the pattern varies depending on the specific gene change (mutation). Autosomal dominant, recessive and X-linked inheritance have been reported.[1][4] 
Last updated: 4/18/2019
Common variable immunodeficiency is diagnosed based on symptoms (chronic, recurrent infections) and laboratory tests that look for decreased levels of specific immunoglobulins.[4] Because there are many causes of immune deficiency, other conditions must be ruled out. Several groups have published criteria for diagnosing CVID and other immune deficiencies.[5][6]
Last updated: 4/18/2019
The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. In some people with CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed.[2]

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.

Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.
Last updated: 4/19/2019
The long-term outlook (prognosis) and life expectancy for people with common variable immunodeficiency (CVID) varies. The prognosis largely depends on whether there is severe autoimmune disease; whether there are recurrent infections that cause structural lung damage; and the development of a malignancy (cancer). Other major factors that influence prognosis include the extent of end-organ damage and how successfully infections can be prevented.[2][3]
Last updated: 11/11/2016
About 30 out of 100,000 people have common variable immunodeficiency in the US.[2] The incidence varies in other parts of the world.
Last updated: 4/18/2019

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Common variable immunodeficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Common variable immunodeficiency. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Common variable immunodeficiency:
    United States Immunodeficiency Network (USIDENT) Registry
     

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.

Organizations Supporting this Disease

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.

Where to Start

  • 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.

In-Depth Information

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have CVID and I am currently expecting my second child. I breastfed my first for 6 months, however, this was before my diagnosis. Is it worth me feeding a second time? Will the Ig from my replacement therapy be passed on to my child in my milk, or would they get more nutrition with formula milk? See answer

  • Does CVID affect pregnancy? Is there any risk in conceiving, or carrying a baby to full term? See answer


  1. Common variable immune deficiency. Genetics Home Reference. 2016; http://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency.
  2. 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.
  3. Common variable immune deficiency. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/common-variable-immune-deficiency/.
  4. 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.
  5. 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/.
  6. 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.
  7. Karin Engelhardt, Bodo Grimbacher, P Herholz. Common Variable immunodeficiency. Orphanet. June, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572.