Defects in B cell function, T cell function, and innate immunity comprise the majority of primary immune deficiencies. Each compartment has a characteristic set of archetypical features. Defects in B cell function are characterized by poor immunoglobulin production, which, in turn, leads to recurrent sinopulmonary infections. Defects in T cell function are characterized by delayed clearance of viruses, susceptibility to opportunistic infections, and a high rate of autoimmune disease. Defects of innate immunity are typically associated with early-onset, severe infections. This chapter describes defects in immunoglobulin production or function, T cell disorders, defects in Toll-like receptor (TLR) signaling, defects in the interleukin-12 (IL-12)/interferon-gamma signaling pathway, and defects of T helper type 17 (Th17) immunity. Tables outline specific pathogens that should alert the clinician to potential immune deficiency, provide a comparison of immunoglobulin production defects, and describe severe combined immune deficiency types. Figures include schematic representations of the TLR signaling pathway, the IL-12/interferon-gamma signaling pathway, and the Th17 immune response.
This chapter contains 3 highly rendered figures, 3 tables, 72 references, and 5 MCQs.