Abstract

Primary immunodeficiency disease (PID) or inborn error of immunity is a heterogenous group of inherited diseases affecting the immune system resulting in increased susceptibility to infections, immune dysregulation, autoimmune manifestations, lymphoproliferation and malignancy. Cases of PIDs have been reported in Malaysia since 1977 and the numbers of reported cases steadily increased for the past 30 years with more trained clinical immunologist available, better immunodiagnostic facilities, wider immunoglobulin replacement therapy availability and improved techniques in haematopoietic stem cell transplantation for PIDs. In this article, we highlight some of the limitations and challenges in the diagnosis and therapy of PID, and more recent efforts to establish PID service in Malaysia.

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