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Rational laboratory diagnostics of primary immunodeficiency disorders

Abstract: Primary immunodeficiency disorders (PIDs) are a group of more than 300 conditions associated with inborn defects of different elements of the immune system. First symptoms usually occur during early infancy, but some PIDs may present at first in adolescence or adulthood or after infections with specific pathogens. Typically, the underlying defect results in recurrent and persistent infections that are difficult to treat. However, patients may have a variable and wide set of symptoms ranging from mild to severe and some requiring immediate lifesaving intervention. As PIDs are relatively rare and fundamental immunological knowledge is required to understand them, an accurate diagnosis is often made too late and many patients probably may remain undiagnosed. In this article, we first give an overview on the human immune system and how PIDs are classified according to clinical features and immunological defects. Next, we focus on the possibilities of immunological and molecular genetic diagnostics of PIDs. Benefits and challenges of current diagnostic methods, especially with regard to next-generation sequencing techniques, are discussed.