Abstract
Immunodeficiencies are inherited and acquired defects in immune function that produce increased susceptibility to infection and, often, increased reactivity to self (autoimmunity) and environmental antigens (allergy/hypersensitivity). The primary immunodeficiency diseases are an ever-widening group of genetic disorders with defects in innate or adaptive immunity or both. Increasingly, it is becoming recognized that primary immune deficiency disorders are associated with immune dysregulation and autoimmune phenomena. This chapter will review current knowledge about those primary immune deficiency disorders that are associated with autoimmunity and the diverse underlying mechanisms of pathogenesis involved in the loss of self-tolerance that are responsible for these associations.
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