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Primary immunodeficiencies (PIs) are inherited disorders of the immune system that predispose patients to recurrent infections, malignancies, and autoimmune diseases. Unusually severe, long-lasting, atypical, or repeated infections are indications for an immune system evaluation. Warning signs also include the need for intravenous (IV) antibiotics, recurrent deep-seated infections, and chronic oral or cutaneous candidiasis. Other clues for immunodeficiency include chronic diarrhea, atypical infections, complications from live vaccines, autoimmune disease (eg, idiopathic thrombocytopenic purpura), and malignancies (eg, lymphoma).

There are some typical patterns of age of onset, infectious organism(s), and site(s) of infection for each type of PI (Table 58–1)....

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