Common variable immunodeficiency

What causes common variable immunodeficiency (CVID)?

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.

At least 20 different genes have been associated with CVID. 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 on 05-01-20

How is common variable immunodeficiency diagnosed?

Common variable immunodeficiency is diagnosed based on symptoms (chronic, recurrent infections) and laboratory tests that look for decreased levels of specific immunoglobulins. 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.

Last updated on 05-01-20

How is common variable immunodeficiency inherited?

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.

Last updated on 05-01-20

What is known about breastfeeding in women with CVID on Ig replacement therapy during and/or after pregnancy?

To our knowledge, there is limited information about breastfeeding in women with CVID who have been on Ig therapy during and/or after pregnancy.

While immune globulins from Ig therapy may be present in breast milk, measurements of concentrations (taken from only two lactating mothers on therapy) did not produce significant or consistent findings. However, immune globulins are normal components of human milk.

In 2009, researchers published a report about two mothers with CVID and their infants. During pregnancy both women continued intravenous Ig (IVIG) therapy. The authors concluded that breastfeeding should be encouraged, as colostrum from these women provided immunological protection, plus nutritional and psychological benefits for the infant.

IVIG is considered a therapeutic option for mothers with multiple sclerosis (MS) who are breastfeeding. A study that included 69 women with MS who had received IVIG postpartum did not include any reports of serious adverse effects among the exposed nursing infants. In another case series of 43 women with MS who received 60 g IVIG within 3 days postpartum, and 10 g/month thereafter, there was only a transient rash one day after a mother's dose. The rash might have been from the IVIG. All women breastfed for at least 4 weeks.

We are unable to make recommendations about whether to breastfeed or formula feed, as this is a personal decision. While many health organizations recommend breastfeeding in general, breastfeeding may not be possible for all women, especially in specific medical situations. For mothers who are unable to breastfeed or decide not to, formula is a healthy alternative and provides infants with the nutrients they need.

Women with CVID and on Ig therapy who have questions or concerns about breastfeeding are encouraged to speak with their immunologist for information and/or advice.

Last updated on 05-01-20

Are there any risks associated with conceiving, or being pregnant, for women with common variable immunodeficiency?

There are risks associated with pregnancy in women with CVID. However, with appropriate medical management and surveillance, women with CVID can have a pregnancy without increased risk of infection, and a baby born with adequate IgG levels. We are not aware of an increased risk of infertility (being unable to conceive) being directly associated with having CVID. However, women with CVID may be at increased risk for miscarriage.

An infant's immune system is immature at birth, and during the first few months of life. Transport of IgG through the placenta (which occurs mainly after 32 weeks gestation) plays a central role in protecting the infant from infections. Having regular IgG replacement therapy is crucial both during pregnancy and during the first few weeks after childbirth. This therapy is needed for the mother's health, and for the baby's health (it provides immunological protection for the infant). Without therapy during pregnancy, fetuses and newborns may have an increased risk of infection.

Stable, protective IgG levels are reached only after 3–6 months of replacement therapy. Therefore, IgG treatment should be started by the early stages of pregnancy to ensure stable levels in both the mother and the infant. Several case reports of pregnant women with CVID have indicated a need to increase the dosage of IgG throughout pregnancy to maintain adequate levels. Pregnant women with CVID should be regularly monitored (by both their immunologist and obstetrician), and adjustments to doses may be needed to prevent pregnancy-associated infections or potential complications. Stable IgG levels in the mother avoids having to infuse IgG in the infant. Another protective factor for the infant is breastfeeding.

Newborns of mothers with CVID should have serum IgG tested and be closely observed for infections. If IgG levels in the newborn are not high enough, IgG replacement therapy or donor breast milk supplements can be used depending on the severity of the IgG deficiency in the newborn.

Last updated on 05-01-20

What is the long-term outlook for people with common variable immunodeficiency?

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.

Last updated on 05-01-20

How many people have common variable immunodeficiency?

About 30 out of 100,000 people have common variable immunodeficiency in the US. The incidence varies in other parts of the world.

Last updated on 05-01-20

How might common variable immunodeficiency be treated?

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.

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 on 05-01-20

Where To Start

Common variable immuno - Immune Deficiency Foundation

The Immune Deficiency Foundation has an information page on this topic. Click on the link above to view the information page.

Last updated on 04-27-20

Name: Jeffrey Modell Foundation JMF 780 Third Ave
New York, NY, 10017, United States
Fax : 212-764-4180 Email: info@jmfworld.org Url: http://www.info4pi.org/ 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.
Name: International Patient Organization for Primary Immunodeficiencies IPOPI Rock Bottom, Trerieve Downderry
PL11 3LY
United Kingdom
Phone: 44-01503-250-668/961 Email: Info@ipopi.org Url: https://ipopi.org
Name: Immune Deficiency Foundation 110 West Road, Suite 300
Towson, MD, 21204, United States
Toll Free: 1-800-296-4433 Fax : +1-410-321-9165 Email: https://www.primaryimmune.org/services/ask-idf/ Url: https://www.primaryimmune.org/
Name: United States Immunodeficiency Network (USIDNET) 110 West Road, Suite 300
Towson, MD, 21204-4803, United States
Phone: 443-632-2558 Toll Free: 800-296-4433 (se habla español) Email: contact@usidnet.org Url: https://www.usidnet.org
Name: Canadian Immunodeficiencies Patient Organization (CIPO) 25 La Grave St Winnepeg, MB
R3V 1J1, Canada
Phone: 877-262-2476 (toll-free) Fax : 866-942-7651 (toll-free) Email: http://www.cipo.ca/#contact Url: http://cipo.ca
Name: Immune Deficiencies Foundation Australia PO Box 969 Penrith NSW 2751
Australia
Phone: 800-100-198 Email: info@idfa.org.au Url: http://www.idfa.org.au/
Name: Australasian Society of Clinical Immunology and Allergy ASCIA PO Box 450 Balgowlah NSW 2093
Australia
Email: projects@allergy.org.au Url: http://www.allergy.org.au/
Name: Primary Immune Deficiency UK PID UK PO Box 6970
Basingstoke, RG24 4XL, United Kingdom
Toll Free: 0800 987 8986 Email: hello@piduk.org Url: http://www.piduk.org/
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. Reference Link 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. Reference Link Common variable immune deficiency National Organization for Rare Disorders (NORD). Updated 2017; Reference Link 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. Reference Link 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. Reference Link Ana Rath and Stéphanie NGUENGANG WAKAP. Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, January 2020, Number 2 : Diseases listed by decreasing prevalence, incidence or number of published cases Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January 2020 - Number 2. January 2020; Number 2. 64. Reference Link

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