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).
Introduction: Thalassemia prevalence in Malaysia is highest in Sabah. This study was conducted to characterize the demographic and socioeconomic profile of transfusion-dependent β-thalassemia major patients in Sabah, to explore their parents’ background, and to identify factors associated with having more than one thalassemia major children in the family. Methods: This was a cross-sectional study conducted in Hospital Wanita dan Kanak-Kanak Sabah and Hospital Kota Belud Sabah between February 2018 and Jun 2019. A total of 108 patients attending Thalassemia Treatment Clinic at both centers were selected randomly for interview. Results: β-thalassemia major patients in this study were majority from the indigenous ethnic groups (Kadazan, Dusun, Murut, Rungus, Sungai). Parents of the thalassemia patients mostly had low education level and socioeconomic status. Thirty-seven percent of parents have more than one children with thalassemia major and a high proportion (41.7%) have intermarriages. Parents with a higher number of children in the family are associated with having more than one thalassemia major children (OR: 2.1, 95% CI: 1.5, 2.9, P-value = 1.3 x 10-5). Conclusions: A considerably high proportion of parents have more than one children with thalassemia major in this study. Knowledge and counselling are important to parents with low educational level and socioeconomic status to ensure their understanding of thalassemia risk and prevention.