Primary immunodeficiency disease (PID) or inborn error of immunity is a heterogeneous 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 services in Malaysia.
Chronic granulomatous disease (CGD) is defined as an inherited phagocyte disorder causing defective superoxide generation and intracellular killing. Reduced or missing burst activity of nicotinamide dinucleotide phosphate (NADPH) oxide complex is observed in this inborn defect that usually manifests itself during the first two years of life. It can be inherited either by X-linked inheritance or autosomal recessive inheritance. Most patients with CGD develop failure to thrive, severe bacterial adenitis, abscesses, osteomyelitis or hyperinflammaory manifestations. (Copied from article).