Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand

摘要: Primary immune deficiency disorders (PIDs) are a group of diseases associated with genetic susceptibility to recurrent infections, malignancy, autoimmunity, and allergy. The molecular basis many these has been identified in the last two decades. Most inherited as single gene defects. As discussed this paper, identifying underlying defect plays critical role areas—including patient management, diagnosis, atypical presentations, family studies, providing prognostic information, prenatal defining new diseases. New Zealand is geographically isolated, developed country South Pacific. We have introduced dedicated customized testing service for PID patients Zealand. This accredited diagnostic program offers rapid turnaround times tests minimizes risk laboratory errors. Here we review clinical indications PIDs based on cases referred immunology at Auckland City Hospital.