Laboratory evaluation of primary immunodeficiency disorders

Abstract The modern recognition of defects in host defense and the dawn of the field of primary immune deficiencies was catalyzed by the advent of instrumentation capable of identifying immunoglobulins. Congenital agammaglobulinemia was originally identified by Colonel Ogden Bruton through the analysis of the electrophoretic pattern of serum proteins. Over the past 6+ decades since Bruton's seminal report, advances in understanding and enhanced laboratory tools for evaluating the immune system have led to the identification of an expanding number of immune deficiency disorders (PIDD). At present the diagnosis and management of primary immune deficiencies relies heavily on laboratory analysis of immune cells and proteins. This chapter will discuss typical analytic methods used to study the immune system exclusive of genetic testing, which will be covered in Chapter 5 .