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Common variable immunodeficiency

Common variable immunodeficiency (CVID) is a group of 20-30 primary immunodeficiencies (PIDs) which have a common set of symptoms but with different underlying causes. more...

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Causes and types

CVID's underlying causes are different, but the result of these are that the patient doesn't produce sufficient antibodies in response to exposure to pathogens. As a result, the patient's immune system fails to protect them against common bacterial and viral (and occasionally parasitic and protozoal) infections. The net result is that the patient is prone to illness. Both parts of the immune system (the cellular and humoral system) are affected, hence its classification as a combined immunodeficiency.

Because CVID is a catch-all diagnosis, which encompasses a number of as-yet undifferentiated disorders, the cause of each specific disorder is different so one can't identify a single common theme. Some cases appear to be genetic, similarly to severe combined immunodeficiency (SCID), some appear to be environmental in some way, some may be pathogenic (with Epstein-Barr virus implicated by some informal research). Most of the diagnoses are probably a combination of genetic predisposition along with a pathogenic or envirogenic trigger.

Symptomology

Symptoms of CVID are:

  • hypogammglobulinaemia, or low levels of immunoglobulin G (IgG)
  • many patients have low levels of immunoglobulin A (IgA) and immunoglobulin M (IgM)
  • polyarthritis, or joint pain, spread across most joints, but specifically fingers, wrists, elbows, toes, ankles and knees
  • repeated incidence of infections which respond to antibiotics or antivirals, specifically: upper respiratory tract infections (URTIs), sinusitis, tonsilitis, epiglottitis, dermatological abcesses/boils (often, but not exclusively, facial and axillary), pneumonia, bronchitis, pleurisy, stomach/intestinal infections, colds, influenza, shingles, conjunctivitis
  • diarrhoea (often arises as a result of "minor" intestinal infections, including protozoal and parasitic infections)
  • bronchiectasis (lung tissue damage as a result of repeated chest infections) leading to shortness of breath
  • poor titer levels in response to vaccination. Responsiveness may be tested after administration of polysaccharide and non-polysaccharide coated pathogens (e.g. streptococci and tetanus respectively)
  • children may show a "failure to thrive" - they may be underweight and underdeveloped compared with "normal" peers
  • patients may lose weight

Diagnosis normally takes in excess of two years, and diagnosis is often made in the second or third decade of life after referral to an immunologist.

As with several other immune cell disorders, CVID can predispose for some skin cancers and lymphoma. There also appears to be a predilection for autoimmune diseases. However, these appear to be relatively rare, with a risk of about 7%.

Read more at Wikipedia.org


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Common variable immunodeficiency
From Gale Encyclopedia of Medicine, 4/6/01 by John Thomas Lohr

Definition

Common variable immunodeficiency is an immunodeficiency disorder characterized by a low level of antibodies. Patients with this disease are subject to recurring infections.

Description

Immunodeficiency means that the immune system is deficient in one or more of its components and is unable to respond effectively. Common variable immunodeficiency is the most common of the immunodeficiency disorders. Patients with this disease have frequent infections, especially those caused by the same microorganism. Recurring infections are an indication that the immune system is not responding normally and developing immunity to reinfection. Patients with common variable immunodeficiency have a normal number of B cells, the lymphocytes that make antibodies. In approximately one-third of these patients, the number of B cells in the blood that have IgG antibodies on their surface is lower than normal, but there are normal numbers of B cells in their bone marrow. B cells with IgG antibodies on their surface are capable of responding to microorganisms. The lack of IgG on the surface of the B cells means that they are not prepared to fight infection. The T-cell lymphocytes, those cells responsible for cellular immunity, are usually normal, although some cell signal components may be lacking.

Causes & symptoms

The cause of common variable immunodeficiency is not known, although some forms seem to be hereditary. The main symptom is recurring infections that tend to be chronic rather than acute. Patients may also develop diarrhea and, as a consequence of the diarrhea, not absorb food efficiently. This can lead to malnourishment which can aggravate the disorder. Common variable immunodeficiency normally appears in children after the age of ten. Autoimmune disorders such as rheumatoid arthritis, thyroiditis, and systemic lupus erythematosus and certain cancers such as lymphomas and leukemias may be associated with common variable immunodeficiency.

Diagnosis

As is true of most immunodeficiency disorders, one of the first signs that the patient has the condition is recurrent infections. Patients with common variable immunodeficiency are subject to recurrent infections, especially those caused by microbes that don't normally cause disease in normal persons. The main diagnostic test that distinguishes common variable immunodeficiency from other immunodeficiency diseases is the low antibody level despite the normal number of B cells. Antibody levels are tested in the serum by a procedure called electrophoresis. This procedure both quantifies the amount of antibody present and identifies the various classes of antibodies. The main class of antibody for fighting infectious diseases is IgG.

Treatment

There is no treatment that will cure the disorder. Treatment for common variable immunodeficiency aims at boosting the body's immune response and preventing or controlling infections. Immune serum, obtained from donated blood, is given as a source of antibodies to boost the immune response. Immune serum is obtained from donated blood. It contains whatever antibodies the donors had in their blood. Consequently, it may not contain all the antibodies that the patient needs and may lack antibodies specific for some of the recurring infections that these patients suffer. Antibiotics are used routinely at the first sign of an infection to help the patient eliminate infectious microorganisms.

Prognosis

With good medical care, people with common variable immunodeficiency usually have a normal life span.

Prevention

The disease itself cannot be prevented, but patients and their families can take precautions to prevent the recurrent infections commonly associated with it. For example, good hygiene and nutrition are important, as is avoiding crowds or other people who have active infections.

Further Reading

For Your Information

    Books

  • Abbas, Abul K., Andrew H. Lichtman, and Jordan S. Pober.Cellular and Molecular Immunology. 3rd ed. Philadelphia, W.B. Saunders, 1997.
  • Professional Guide to Diseases. 5th ed. Springhouse, PA: Springhouse Corp., 1995.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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