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55 Kenosia AvenuePO Box 1968

Danbury, CT 06813-1968

Phone: 203.744.0100

Toll Free: 1.800.999.6673http://rarediseases.org

Common Variable Immune Deficiency

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listed as Resources on this report.

Copyright 1998, 1999, 2000, 2007, 2011

NORD is very grateful to Charlotte Cunningham-Rundles, MD, PhD, Departments of Medicine, Pediatrics, The

Immunology Institute, Mount Sinai School of Medicine, for assistance in the preparation of this report.

Synonyms of Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia common variable hypogammaglobulinemia common variable immunodeficiency CVI CVID immunodeficiency, common variable late-onset immunoglobulin deficiency

Disorder Subdivisions

No subdivisions found.General Discussion

Common Variable Immune Deficiency (CVID) is a type of primary immunodeficiency, which is defined as an

immune system dysfunction typically caused by a mutation in a gene or genes. The World Health Organization(WHO) recognizes more than 150 primary immunodeficiencies ranging from relatively common to quite rare.

http://rarediseases.org/http://rarediseases.org/

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CVID is one of the most prevalent of primary immunodeficiencies and manifests a wide variability of

symptoms and range of severity. It is considered a diverse group of diseases of unknown cause (etiology) as

many different immune system defects have been reported. CVID is characterized by a low level of specificproteins (antibodies, also called immunoglobulins) in the fluid portion of the blood which results in a

decreasedability to fight invading microorganisms, toxins, or other foreign substances. These immunoglobulins

are produced by specialized white blood cells (B cells) as they mature.

The cause of CVID is unknown in 75-80% of cases, and a genetic cause has been identified in 10-20%.Sporadic cases, with no apparent history of the disorder in their family, may be caused by a complex interaction

of environmental and genetic components (multifactorial inheritance), but genes that are involved in thedevelopment and function of B cells are believed to be the primary cause.

Symptoms

The clinical course and symptoms of CVID vary widely from mild to severe. The immunoglobulins affected

also vary. For example, some patients have a deficiency in all three major types of immumoglobulins:

immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin M (IgM) while others have a shortageof just IgG and IgA.

Onset of symptoms, including frequent and unusual infections, may first occur during childhood andadolescence; however, in the majority of patients, the diagnosis is not made until the third to fourth decade of

life.

People with CVID have trouble fighting off infections because of a lack of antibodies which are normally madeto resist invading microbes. As antibody production is impaired, vaccines often are not effective in people with

CVID. Recurrent bacterial infections, particularly affecting the upper and lower respiratory tracts, such as in the

lungs, sinuses, or ears, are common. Recurrent lung infections can lead to chronic lung disease and potentially

life-threatening complications.

Gastrointestinal complications, such as infections or inflammation, are also prevalent. Some patients reportabdominal pain, bloating, nausea, vomiting, diarrhea and weight loss. Affected individuals may also have animpaired ability to absorb nutrients such as vitamins, minerals, fat and certain sugars from the digestive tract.

Individuals with CVID may also experience recurrent or chronic infections (giardiasis) of the small intestine

caused by the single-celled parasite called Giardia lamblia. (For more information on giardiasis, choose"giardiasis" as your search term in the Rare Disease Database.)

Individuals with CVID also have an increased susceptibility to certain bacterial gastrointestinal infections (e.g.,

Campylobacter, etc.) that may cause symptoms similar to those associated with giardiasis.

Due to abnormalities in the maturation of B cells, and dysregulation of theimmune system, some individuals

with CVID may have abnormal accumulations of lymphocytes in lymphoid tissues such as lymph nodes(lymphadenopathy) or spleen (splenomegaly). In some cases, abnormal growth of small nodules of lymphoidtissue in the gastrointestinal tract (nodular lymphoid hyperplasia) may occur. In addition, an increased percent

of individuals with CVID are more prone to developing certain forms of cancer than the general population

such as malignancies of lymphatic tissue (lymphoma) and possibly stomach cancer). The risk of gastriccarcinoma is almost 50 times greater in patients with CVID than in other individuals.

In addition, in some cases, individuals with CVID may develop granular, inflammatory nodules (noncaseatinggranulomas) within tissue of the skin, lungs, spleen, and/or liver.

Twenty to twenty-five percent of patients with CVID are prone to developing certain autoimmune disorders.

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Immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA) anemia are the most frequentlydiagnosed ones. (For more information on these disorders, choose Idiopathic Thrombocytopenic Purpura

and Anemia, Hemolytic, Acquired Autoimmune as your search terms in the Rare Disease Database.)

It is not fully understood why CVID patients are at risk for autoimmune disorders. CVID suppresses the

immune response, whereas autoimmunity involves an overactive immune system that attack the body s healthy

tissues and organs. This phenomenon suggests that more complex defects in the immune system, beyond

qualitative and quantitative defects in antibodies production, underlie the diverse clinical manifestations of

CVID.

Causes

The cause of CVID is unknown in 95% of cases and a genetic cause has been identified in less than 5%.

Autosomal dominant and autosomal recessive inheritance has been reported in some families with CVID. Morecommonly, sporadic cases, with no apparent history of the disorder in their family, may be caused by either rare

autosomal defects or complex interactions of environmental and genetic causes (multifactorial inheritance), but

mutations in genes that are involved in the development and function of B cells are believed to be the primary

cause.

B cells are specialized white blood cells that, as they mature into their final stage of plasma cells, producespecial proteins called antibodies (immunoglobulins). These antibodies help protect the body against infectionby attaching to specific invading microorganisms, toxins, or other foreign substances (antigens), marking them

for destruction. Individuals with CVID usually have a deficiency of all major immunoglobulin classes

(panhypogammaglobulinemia). However, in some cases, affected individuals may have severely reduced levelsof some immunoglobulins (i.e., IgG and IgA) and relatively normal levels of IgM.

Researchers have found that, in addition to defective B cells, errors in other immune cells (the T cell system)

may either contribute to or be responsible for the irregularities in immunoglobulin production. Lack of T cell

maturational influence on the developing B cell may lead to poor B cell development.

Some researchers suggest that, in certain cases, CVID and Selective IgA Deficiency may be inherited inconnection with a common disease gene or genes (i.e., in or near the major histocompatibility complex [MHC]class III gene region on chromosome 6) and may represent opposite ends of the spectrum of the same disorder.

This is supported by reports in the medical literature in which some individuals in some multigenerational

families (kindreds) have CVID while other members of the same families have Selective IgA Deficiency. (Formore information on Selective IgA Deficiency, refer to the Related Disorders section below.)

Dominant genetic disorders occur when a single copy of an abnormal gene is necessary to cause a particular

disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (genechange) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is

50% for each pregnancy. The risk is the same for males and females.

Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait,one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be

a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the

defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrierlike the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents

and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Mutations in at least five genes have been associated with CVID. Approximately 10 percent of affected

individuals have mutations in the TNFRSF13B gene but as the same gene can be found in normal relatives and

blood bank normal donors, it is not considered a cause of CVID. Other genes that have been associated with a

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very small percentage of cases include: CD19, CD81, ICOS, and TNFRSF13C. The identification in 2009 of amutation in the ICOS gene in nine CVID patients in one large family showed that what had previously been

perceived as a B-cell disease might in fact have its genetic origin in human T cells.

Affected Populations

CVID equally affects males and females. The prevalence of CVID is approximately 1 in 30,000 people. Thediagnosis of CVID is not made in children under the age of 4, because until that time, it may be confused with

other genetic defects that must be excluded. However, most patients have symptoms later and are not diagnoseduntil ages 20-40.

Related Disorders

Symptoms of the following disorders may be similar to those of Common Variable Immunodeficiency.Comparisons may be useful for a differential diagnosis:

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of

antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. The types ofagammaglobulinemia are: X-linked agammaglobulinemia (XLA), the much rarer X-linked

agammaglobulinemia with growth hormone deficiency (about 10 cases reported), and autosomal recessiveagammaglobulinemia (ARAG). All of these disorders are characterized by a weakened immune system thatmust be strengthened by the administration of gammaglobulin in order to fight off infections. (For more

information on this disorder, choose agammaglobulinemia as your search term in the Rare Disease

Database.)

Hyper-IgM Syndrome (HIGM) is a rare primary immunodeficiency disorder that is usually inherited as an X-

linked recessive condition. People with this disorder have low levels of IgG, IgA and IgE antibodies. Levels of

IgM antibodies may be high or in the normal range. Symptoms and physical findings usually become apparentin the first or second year of life. HIGM is characterized by recurrent bacterial infections of the middle ear,

sinuses, lungs, the membrane that lines the eyelid and the white portion of the eyes, the skin, and/or other areas.

Affected children may have an impaired absorption of nutrients, chronic diarrhea and failure to gain weight(failure to thrive) and enlargement of the tonsils and/or enlargement of the liver and spleen(hepatosplenomegaly). In addition, affected individuals are prone to the development of autoimmune disorders

of the blood such as neutropenia, in which there is a decreased level of certain white blood cells. Because

approximately 70 percent of reported cases of HIGM are X-linked, the vast majority of affected individuals aremale. However, autosomal recessive and autosomal dominant forms of the disorder have also been described.

(For more information on this disorder, choose "Hyper IgM" as your search term in the Rare Disease Database.)

X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited primary immunodeficiency

disorder characterized by a defective immune response to infection with the Epstein-Barr virus (EBV). This

virus is common among the general population and is relatively well-known because it is the cause of infectious

mononucleosis (IM), usually with no long-lasting effects. However, in individuals with XLP, exposure to EBVmay result in severe, life-threatening fulminant hepatitis; abnormally low levels of antibodies in the blood and

body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections;

malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of

symptoms and findings associated with XLP may vary considerably from case to case. In addition, the range ofeffects may change in an affected individual over time. In most cases, individuals with XLP experience an onset

of symptoms anytime from ages about 6 months to 10 years of age. XLP is caused by mutations in the SH2D1A

and XIAP genes.

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by

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mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopeniaand X-linked congenital neutropenia. The WAS gene abnormality results in a deficiency in the WASP protein

that leads to a low platelet count (thrombocytopenia). WAS-related disorders usually present in infancy and are

characterized by bloody diarrhea, recurrent infections, scaling, itchy, skin rashes (eczema), and the appearanceof small purple spots on the skin (petechia). The development of Pneumocystis carinii pneumonia (PCP) and

intracranial bleeding are possible early, life-threatening complications. Later potential complications include

destruction of red blood cells (hemolytic anemia), arthritis, vasculitis and kidney and liver damage. Affected

individuals have an increased risk of developing lymphomas, especially after exposure to Epstein-Barr virus.

WAS-related disorders are extremely variable, even in individuals in the same family. (For more information onthis disorder, choose "WAS" as your search term in the Rare Disease Database.)

Standard Therapies

DiagnosisIn most cases, Common Variable Immune Deficiency is diagnosed based upon a thorough clinical evaluation,

identification of characteristic symptoms and physical findings, a detailed patient and family history, and a

pattern of immune system defects confirmed by laboratory testing.

Confirmation of certain immunologic abnormalities plays an essential role in establishing the diagnosis of

CVID. The diagnosis of CVID is primarily established by testing for low blood (serum) IgG immunoglobulinconcentrations ranging from severely reduced (

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possibility of an underlying CVID should be evaluated before the administration of immunosuppressive drugsfor the autoimmune disease.

Antibiotic medications often prove beneficial for the treatment of various bacterial infections associated withCVID. Patients with irregularities involving the malabsorption of vitamin B12 may also benefit from monthly

B12 injections.

Affected individuals with severely low levels of circulating platelets may be cautioned to avoid the use of

aspirin, since this medication may interfere with the ability of platelets to assist in the blood-clotting process. Inaddition, as is the case with individuals affected by many other primary immunodeficiency disorders,

individuals with CVID should not receive live virus vaccines since there is the remote possibility that thevaccine strains of virus may cause disease as a result of their defective immune systems.

Surveillance for complications include periodic complete blood count (CBC), and differential white bloodcounts to detect lymphoma, annual thyroid examination and thyroid function testing, annual lung (pulmonary)

function testing beginning about age eight to ten years, biopsy of enlarged lymphoid tissue, and other imaging

techniques for assessment of granulomatous disease and gastrointestinal complications.

Genetic counseling is recommended for affected individuals and their family members if a rare autosomal

recessive type of CVID is suspected or confirmed. Other treatment is symptomatic and supportive.

Investigational Therapies

The Immune Deficiency Foundation is conducting studies to determine the prevalence, treatment, costs, andhealth insurance coverage of individuals with primary immunodeficiency diseases. For more information,contact the Immune Deficiency Foundation, which is listed in the Resources section of this report.

The Jeffrey Modell Centers Network (JMCN) is comprised of over 50 Diagnostic & Research Centers

worldwide and more than 300 referral physicians at 138 academic teaching hospitals and medical schools in 39countries and 120 cities, spanning 6 continents. For information on additional research concerning primary

immunodeficiency diseases, contact the Jeffrey Modell Foundation, which is listed in the Resources sectionbelow.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving

U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the

NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

Contact for additional information about common variable immune deficiency:

Charlotte Cunningham-Rundles, MD, PhDDepartments of Medicine, Pediatrics

The Immunology Institute

Mount Sinai School of Medicine

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1425 Madison Avenue,New York City, New York, 10029

212 659 9268 (phone)

212 987 5593 (fax)

Organizations related to Common Variable Immune Deficiency

(Please note that some of these organizations may provide information concerning certain conditions potentially

associated with this disorder [e.g., immune deficiency, autoimmune disorders affecting certain elements of theblood, etc.].)

European Society for Immunodeficiencies1-3 rue de Chantepoulet

Geneva, CH 1211 Switzerland

Phone #: +31- 73--6992965

800 #: N/Ae-mail: esid@kenes.com

Home page:http://www.esid.org

Genetic and Rare Diseases (GARD) Information CenterPO Box 8126

Gaithersburg, MD 20898-8126

Phone #: 301-251-4925

800 #: 888-205-2311e-mail: N/A

Home page:http://rarediseases.info.nih.gov/GARD/

Immune Deficiency Foundation40 W. Chesapeake Avenue

Suite 308

Towson, MD 21204

Phone #: 410-321-6647800 #: 800-296-4433

e-mail: idf@primaryimmune.org

Home page:http://www.primaryimmune.org

International Patient Organization for Primary ImmunodeficienciesFirsideMain Road

DownderryCornwall, PL11 3LE United Kingdom

Phone #: 44 -150-3 250 668

800 #: --e-mail: david@ipopi.org

Home page:http://www.ipopi.org/

Jeffrey Modell Foundation

http://www.esid.org/http://www.esid.org/http://www.esid.org/http://rarediseases.info.nih.gov/GARD/http://rarediseases.info.nih.gov/GARD/http://rarediseases.info.nih.gov/GARD/http://www.primaryimmune.org/http://www.primaryimmune.org/http://www.primaryimmune.org/http://www.ipopi.org/http://www.ipopi.org/http://www.ipopi.org/http://www.ipopi.org/http://www.primaryimmune.org/http://rarediseases.info.nih.gov/GARD/http://www.esid.org/

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780 Third AvenueNew York, NY 10017 USA

Phone #: 212-819-0200

800 #: 866-469-6474e-mail: info@jmfworld.org

Home page:http://www.info4pi.org

Madisons FoundationPO Box 241956Los Angeles, CA 90024

Phone #: 310-264-0826

800 #: N/Ae-mail: getinfo@madisonsfoundation.org

Home page:http://www.madisonsfoundation.org

March of Dimes Birth Defects Foundation1275 Mamaroneck Avenue

White Plains, NY 10605Phone #: 914-997-4488

800 #: 888-663-4637e-mail: Askus@marchofdimes.comHome page:http://www.marchofdimes.com

NIH/National Heart, Lung and Blood InstituteP.O. Box 30105Bethesda, MD 20892-0105

Phone #: 301-592-8573

800 #: --e-mail: nhlbiinfo@rover.nhlbi.nih.gov

Home page:http://www.nhlbi.nih.gov/

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Accessed: 2/8/11.

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Report last updated: 2011/06/21