Twenty to twenty-five percent of patients with CVID are prone to developing certain autoimmune disorders. In addition, some individuals with CVID may develop granular, inflammatory nodules (noncaseating granulomas) within tissue of the skin, lungs, spleen, and/or liver. The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals. 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). In some cases, abnormal growth of small nodules of lymphoid tissue in the gastrointestinal tract (nodular lymphoid hyperplasia) may occur. Individuals with CVID also have an increased susceptibility to certain bacterial gastrointestinal infections (e.g., Campylobacter, etc.) or more recently, norovirus that causes symptoms similar to those associated with giardiasis.ĭue to abnormalities in the maturation of B cells, and dysregulation of the immune system, some individuals with CVID may have abnormal accumulations of lymphocytes in lymphoid tissues such as lymph nodes (lymphadenopathy) or spleen (splenomegaly).
Individuals with CVID may also experience recurrent or chronic infections (giardiasis) of the small intestine caused by the single-celled parasite called Giardia lamblia. Affected individuals may also have an impaired ability to absorb nutrients such as vitamins, minerals, fat and certain sugars from the digestive tract. Some patients report abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss. Gastrointestinal complications, such as infections or inflammation, are also prevalent. Recurrent lung infections can lead to chronic lung disease and potentially life-threatening complications.
Recurrent bacterial infections, particularly affecting the upper and lower respiratory tracts, such as in the lungs, sinuses, or ears, are common. As antibody production is impaired, vaccines are not effective. People with CVID have trouble fighting off infections because of a lack of antibodies which are normally made to resist invading microbes. Onset of symptoms, including frequent and unusual infections, may first occur during childhood and adolescence however, for many patients, the diagnosis may not be made until the third to fourth decade of life. The diagnosis is made by finding that functional antibodies are very low or absent. For example, some patients have a deficiency in all three major types of immunoglobulins: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin M (IgM) while others have a shortage of just IgG and IgA. The clinical course and symptoms of CVID vary widely from mild to severe. These may be caused by a complex interaction of environmental and genetic components (multifactorial inheritance), but genes that are involved in the development and function of immune cells have now been shown to be the primary cause. Sporadic cases, with no apparent history of the disorder in the family, are the commonest form. The cause of CVID is unknown in at least 80% of affected individuals, as a genetic cause has been identified in about 20%. These immunoglobulins are produced by specialized white blood cells (B cells) as they mature into plasma cells. This results in a loss of antibodies and a decreased ability to fight invading microorganisms, toxins, or other foreign substances. CVID is characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood. While considered a genetic condition, the syndrome consists of a group of diseases, and most of the causes are still unknown. The World Health Organization (WHO) recognizes more than 400 primary immunodeficiencies ranging from relatively common to quite rare.ĬVID is one of the most prevalent of the symptomatic primary immunodeficiencies and manifests a wide variability of symptoms and range of severity. 5 Myths About Orphan Drugs and the Orphan Drug ActĬommon 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.Information on Clinical Trials and Research Studies.