TY - CHAP M1 - Book, Section TI - Common Variable Immune Deficiency A1 - Fernandez, James M. A1 - Wesemann, Duane R. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Common variable immune deficiency (CVID) is a heterogeneous immunodeficiency disease characterized by low serum levels of the immunoglobulin isotypes IgG and IgA, impaired ability to produce specific antibodies after immunization and recurrent infections of the sinopulmonary or gastrointestinal tract.First described in 1953 and later coined in 1973, CVID may present in childhood, adolescence, or adulthood and is the most common primary immunodeficiency syndrome that comes to medical attention.In addition to being more susceptible to infections, CVID also can manifest aspects of immune dysregulation with noninfectious complications including autoimmunity (most typically autoimmune cytopenias), noninfectious gastrointestinal disease, granulomatous inflammation, lymphoid disease, and an increased risk of malignancy.Although most cases of CVID are sporadic mutations, seven disease-causing or contributing genes have been identified that give rise to a CVID phenotype in the past 10 years.Prevalence:The prevalence of CVID has been estimated at between 1:10000 and 1:100000 depending on geographic location.Differential diagnosis:Because CVID is a diagnosis of exclusion, other causes of hypogammaglobulinemia must be ruled out. These includeX-linked agammaglobulinemia; X-linked lymphoproliferative disease; hyper-IgM syndromes; IgG subclass deficiency; selective antibody deficiency; secondary hypogammaglobulinemia; decreased production due to malignancy, drugs such as gold salts, penicillamine, antimalarial drugs, corticosteroids, phenytoin, carbamazapine, viral infections, and systemic illnesses causing bone marrow suppression are associated with the decreased production of immunoglobulins; increased loss due to protein-losing enteropathies, such as intestinal lymphangiectasia, nephrotic syndrome, burns, and other traumas leading to loss of fluids. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/11 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102702447 ER -