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Common Variable Immunodeficiency

Common variable immunodeficiency is marked by progressive deterioration of humoral (B-cell) immunity, which results in increased susceptibility to infection. Unlike X-linked agammaglobulinemia, this disorder usually produces symptoms after infancy and childhood, manifesting itself between ages 25 and 40. It affects men and women equally and usually doesn't interfere with a normal life span or with normal pregnancy and offspring.

Common variable immunodeficiency (also known as acquired agammaglobulinemia or common variable agammaglobulinemia) may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, hemolytic anemia, and pernicious anemia, and with cancers, such as leukemia and lymphoma.

Causes

No one knows what causes common variable immunodeficiency. Most patients have a normal circulating B-cell count but defective synthesis or release of immunoglobulins. Many also exhibit progressive deterioration of cell-mediated (T-cell) immunity (detected by delayed hypersensitivity in skin testing).

Although no clear proof of genetic influence on disease occurrence exists, the disease does occur in siblings. Additionally, family members have a higher incidence of hypogammaglobulinemia, selective IgA deficiency, and autoimmune disease.

Symptoms

The following are the most common symptoms of CVID. However, each child may experience symptoms differently. Symptoms may include:

  • recurrent infections that can affect the ears, sinuses, and lungs (the more these infections occur, the greater the risk of scarring and permanent damage to the lungs and breathing tubes)
  • inflammation in the joints of the knees, ankles, elbows, or wrists
  • stomach and bowel disorders
  • increased risk of developing some cancers

Diagnostic tests 

To diagnose CVI, doctors look for

  • below-normal levels of IgG and IgA
  • zero-to-slightly-low levels of IgG
  • low-to-normal IgM levels
  • whether B cells produce antibodies following a common vaccination like a tetanus shot
  • how well the T cells are working
  • gastrointestinal infections if there are digestive symptoms

Pregnancy Precaution

When thinking about conceiving, it is important to work with specialists like those found in a reputable London fertility clinic. The nature of the disease makes it tough to deal with pregnancies and constant medical supervision is necessary. Make sure that you talk with your family doctor so you can be referred to a specialist in this case. 

Treatment

Care and treatment measures for patients with common variable immunodeficiency are essentially the same as for patients with X-linked agammaglobulinemia. Antibiotics are preferred for combating infection. Weekly or monthly injections of immune globulin help to maintain the immune response. Because immune globulin is composed primarily of IgG, the patient may also need fresh frozen plasma infusions to provide IgA and IgM.

Chest physiotherapy may help to forestall or clear lung infections. Surgery may be indicated for sinus drainage; tubes, for chronic otitis media; and splenectomy, for hemolytic anemia.

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.

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