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Primary immunodeficiencies are genetic diseases that can involve all possible aspects of immune responses, from innate through adaptive, as well as cell differentiation, effector function, and immune regulation (Table 160-1). The consequences of primary immunodeficiencies vary widely as a function of the molecules that are defective and include vulnerability to infection by pathogenic and opportunistic infection, immunopathologic responses such as allergy, lymphoproliferations, and autoimmunity, and increased risk of cancers. The locations and sites of infection and the causal microorganisms often aid the physician in diagnosis.

TABLE 160-1Classification of Primary Immune Deficiency Diseases


TABLE 160-2Tests Most Frequently Used to Diagnose a Primary Immune Deficiency (PID)

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