Defects in Intrinsic and Innate Immunity

The defects in intrinsic and innate immunity are a group of monogenic diseases in which there is a numeric and/or functional defect of the cellular components of innate immunity, not included in phagocyte defects or complement defects. It is a very diverse group of primary immunodeficiencies (PID) or inborn errors of immunity (IEI), both immunologically and clinically, but all share that (1) microbial susceptibility is usually very selective and from an early age (infant), and (2) commonly used immunological studies to discard a PID (lymphocyte studies, immunoglobulin dosage, protein vaccine responses) are usually normal; thus, innate immune PID’s diagnosis will require specific immunological tests.