Integrity of the immune system is essential for defense against infectious organisms and their toxic products and therefore for the survival of all individuals. Defects in one or more components of the immune system can lead to serious and often fatal disorders, which are collectively called immunodeficiency diseases. These diseases are broadly classified into two groups. The congenital, or primary, immunodeficiencies are genetic defects that result in an increased susceptibility to infection that is frequently manifested early in infancy and childhood but is sometimes clinically detected later in life. It is estimated that in the United States, approximately 1 in 500 individuals is born with a defect in some component of the immune system, although only a small proportion are affected severely enough for development of life-threatening complications. Acquired, or secondary, immunodeficiencies are not inherited diseases but develop as a consequence of malnutrition, disseminated cancer, treatment with immunosuppressive drugs, or infection of cells of the immune system, most notably with the human immunodeficiency virus (HIV), the etiologic agent of acquired immunodeficiency syndrome (AIDS). This chapter describes the major types of congenital and acquired immunodeficiencies, with an emphasis on their pathogenesis and the components of the immune system that are involved in these disorders.

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