Primary immunodeficiencies in adults

Abstract

In contrast to general opinion, the issue of primary immunodeficiency is far from just a pediatric medicine; a large number of patients with primary immunodefciencies are not only treated, but also diagnosed in adulthood. The most important manifestation of these diseases are serious, unusual or ill-treatable infections. Some primary immune deficiency diseases manifest themselves in adulthood – mainly common variable immunodeficiency (CVID) and Good’s syndrome (hypogammaglobulinemia with thymoma). Due to successful treatment, adults also suffer from illnesses manifestation of which begin in early infancy. Among these, the most common are patients with disorders of antibody production – for example, X-linked agammaglobulinemia or T-cell defect – Di George syndrome (thymus deficiency, morphological heart abnormalities, hypoparathyroidism). Another important group of primary immunodeficiencies are patients with hereditary angioedema (C1-INH deficiency). These patients do not suffer from an increased incidence of infections, but from swelling of the subcutaneous and submucosal tissues.