Last update:
03-Aug-2013

Primary antibody deficiencies (PADs) are no longer considered rare diseases. Given that about half of these disorders are diagnosed in adult life with a 5-year delay, while at death the median age of patients is above the 50th year of life, PADs represent a common and challenging problem for the adult medicine. The vast majority of patients requiring medical care for PADs during adult life suffer from common variable immunodeficiency (CVID). This is a review of adult-onset PADs focusing on their as yet unexplained inflammatory and lymphohyperplastic manifestations, which dominate the clinical picture of CVID, especially after effective management of infections and their complications by intravenous immunoglobulin treatment. The proposed classifications of CVID are presented which address both the clinical and the pathogenetic aspects of the disease. These classifications and the surrogate immunophenotype markers might be helpful for the early identification of patients with PADs, particularly those presenting with granulomatous disease and/or lymphadenopathy that are not easily detectable. The criteria for and specific differential diagnostic aspects of CVID in adult patients are reviewed, and the effectiveness of immunoglobulin therapy as assessed 30 years after its first introduction is evaluated.

Key words: Class switch recombination selective deficiencies, Common variable immunodeficiency, Primary antibody deficiencies, Selective IgA deficiency, Specific antibody deficiency with normal immunoglobulin levels.