Diagnosis of Immunodeficiencies

Innate and chronic immunodeficiencies represent a group of heterogeneous dysfunctions of the immune system resulting in impaired defense on infections and tumors. Genetically determined disorders of the protective immune function, commonly referred as Primary Immuno Deficiency diseases (PID), and it have been recognised clinically already 60 years ago with the identification of X-linked agammaglobulinemia. Today, the group of PID involves over 280 distinct entities which are scattered to present as phagocytic disorders, complement deficiencies, T-cell deficiencies and – predominantly - antibody disorders. PID are not rare diseases; with a summarised prevalence ranging from 1 in 250 to 1 in 500. However, they are misdiagnosed in many cases because of their subtle clinical image and their prolonged course of disease, which often worsens the outcome. Although increasingly becoming appreciated as a major health problem, there is a lack of diagnostic procedures and sophisticated therapeutic perspectives that would allows upon earliest possible diagnosis and a satisfactory treatment of patients with primary immunodeficiency diseases