Sandra Pienaar

Learn More
The epidemiology of primary immunodeficiencies (PID) is not well documented in Africa. The objective of this study was to describe the spectrum of PID at a tertiary paediatric centre in South Africa. A retrospective study was conducted on 168 patients diagnosed with PID from 1983 to 2009. Over the study period, antibody deficiencies predominated (51%)(More)
Host recognition of mycobacterial surface molecules occurs through toll like receptors (TLR) 2 and 6. The adaptor protein TIRAP mediates down stream signalling of TLR2 and 4, and polymorphisms in the TIRAP gene (TIRAP) have been associated with susceptibility and resistance to tuberculosis (TB) in adults. In order to investigate the role of polymorphic(More)
INTRODUCTION Interferon γ release assays (IGRAs) are increasingly used for tuberculosis (TB) infection, but their incremental value beyond patient demographics, clinical signs and conventional tests for active disease has not been evaluated in children. METHODS The incremental value of T-SPOT.TB was assessed in 491 smear-negative children from two(More)
Group-specific component (Gc) variants of vitamin D binding protein differ in their affinity for vitamin D metabolites that modulate antimycobacterial immunity. We conducted studies to determine whether Gc genotype associates with susceptibility to tuberculosis (TB). The following subjects were recruited into case-control studies: in the UK, 123 adult TB(More)
OBJECTIVE To describe the spectrum of primary immunodeficiency diseases (PIDs) diagnosed at Red Cross War Memorial Children's Hospital. DESIGN Retrospective, descriptive study. SETTING Tertiary, referral hospital. PATIENTS All patients investigated by the immunology service because of suspected PIDs, between January 1983 and December 1996. METHODS(More)
OBJECTIVE Molecular analysis of the Bruton's tyrosine kinase (Btk) gene in two unrelated families, with a combined total of seven boys, affected by X-linked agammaglobulinaemia (XLA). METHODS Protein electrophoresis and western blotting were used for the examination of Btk protein synthesis in blood leucocytes. Isolation of the coding sequence of the Btk(More)
BACKGROUND The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1). METHODS Diagnoses were based on immunoglobulin results and the absence of CD40 ligand (CD40L) expression on activated T-cells. Complete molecular characterisation involved CD40L cDNA(More)
BACKGROUND Urine tests for mycobacterial lipoarabinomannan might be useful for point-of-care diagnosis of tuberculosis in adults with advanced HIV infection, but have not been assessed in children. We assessed the accuracy of urine lipoarabinomannan testing for the diagnosis of pulmonary tuberculosis in HIV-positive and HIV-negative children. METHODS We(More)
A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.
immunodeficiency disease of phagocytic cells, resulting from impaired function of one of five essential subunits of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme complex within neutrophils, eosinophils, monocytes and macrophages. This enzyme complex mediates intracellular killing of phagocytosed micro-organisms. The NADPH(More)
  • 1