Genetics and Inheritance of Common Variable Immune Deficiency

Patients with CVID usually have normal numbers of the cells that produce antibody (B-lymphocytes), but these cells fail to undergo normal maturation into plasma cells, the cells capable of making the different types of immunoglobulins and antibodies for the blood stream and secretions.

The genetic causes of CVID are largely unknown, although recent studies have shown the involvement of a small group of genes in a few patients. These include inducible co-stimulatory (ICOS) and a few other proteins on B-cells. These appear to be causes of autosomal recessive CVID. Mutations in a cell receptor (TACI) needed for normal growth and regulation of B-cells have also been found in about 8% of patients with CVID. However, a causative role of TACI mutations in this immune defect is not yet clear, since some of these mutations can be found in people with normal immunoglobulins. As these are very rare gene defects for the most part, genetic testing is not yet required or indicated for the diagnosis of CVID.

Excerpted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases FIFTH EDITION.

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