Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 24 for “"primary immunodeficiency"”.
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Genomic investigation of primary immunodeficiency
Primary immunodeficiencies (PIDs) are a collection of rare diseases which effect one or more components of the human immune system and are typically considered monogenic. PID presents with features including increased susceptibility to infection, autoimmunity, autoinflammation, atopy and …
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MUTATION OF REGNASE-1 CAUSES PRIMARY IMMUNODEFICIENCY ASSOCIATED WITH AUTO-INFLAMMATORY DISEASE
Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders causing immune dysfunction that manifest with increased susceptibility to infection. Some PID patients may also have autoimmune and autoinflammatory manifestations. In many cases, PIDs are monogenic disorders that follow …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975-2017
Background: Even in the absence of global threat, children with disabilities were underrepresented in monitoring efforts and were less likely to have been included in response strategies during the COVID - 19 pandemic. The harmful effects of the pandemic were expected to be most damaging for those …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
Background. The primary immunodeficiency diseases (PIDs) constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
Background. The primary immunodeficiency diseases (PIDs) constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among …
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Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)
A specialised clinic for the diagnosis of primary immunodeficiency diseases was established at the Red Cross War Memorial Children's Hospital (RXH) in 1982. The patient load was significant as clinic records indicated that 122 primary immunodeficiency cases were diagnosed on clinical and laboratory …
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Immunological evaluation of HIV-negative invasive fungal disease at Groote Schuur Hospital, Cape Town, South Africa
… HIV-related or associated with another secondary immunodeficiency e.g. haematopoietic stem cell transplant. After excluding secondary immunodeficiency, a detailed immune work-up can lead to a diagnosis of primary immunodeficiency. Objective To detail an appropriate step-wise immunological work-up …
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TNFRSF13B Genetic variability an anthropological - evolutionary approach to Biomedical Research
… by clinical genetics studies in Common Variable Immunodeficiency (CVID), the most common clinically relevant primary immunodeficiency in individuals of European ancestry, but their functional effects in relation to the development of the disease have not been entirely established. To examine the …
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Molecular defects in B lymphocytes from patients with CVID- syndrome
Common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease, the hallmark of which is hypogammaglobulinemia. A number of defects of T cell function and deficits in the memory B cell pool have been identified, but the underlying cause for this defect remains unknown. …
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Bronchiectasis in African children: disease burden, aetiology and clinical spectrum at a paediatric tertiary hospital in Cape Town, South Africa
… (27.6%) who were HIV-infected and 3 (5.1 %) with primary immunodeficiency. Other causes included aspiration syndrome (8, 13.8 %) and anatomical abnormalities (4, 6.9%). Of the participants with post infectious bronchiectasis, tuberculosis was the commonest organism that was isolated (16, 64.0%) …
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PI3Kδ in B cell Homeostasis and Transformation
… PIK3CD drives Activated PI3Kδ Syndrome (APDS), a primary immunodeficiency with increased risk of pulmonary infection, autoimmunity, and B cell lymphoma development. This thesis explores the role of hyperactive PI3Kδ in B cell homeostasis, maintenance, and malignant transformation. The Okkenhaug …
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Analysis of cytomegalovirus UL97 drug resistance mutations in patients receiving Ganciclovir
… to ganciclovir in the haematological oncology, primary immunodeficiency and solid organ transplant patients in the Western Cape. The assay successfully detected CMV UL97 drug resistance mutations in whole blood and cerebrospinal fluid clinical samples. Ongoing viral replication in the background …
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Monogenetic Immune Dysregulation Syndromes and their Effect on the Plasma Cell Compartment
… with immune dysregulation, such as patients with primary immunodeficiency (PID) or rheumatic diseases, these interactions are altered. Plasma cells (PC) and their B cell progenitors, that play a key role in maintaining humoral and cellular memory, are impaired within these patients. We …
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The Genetic, Molecular, And Cellular Bases Of Unidentified Primary Immunodeficiencies
… true human disease and in vivo human biology. Primary immunodeficiencies are inborn genetic defects of immunity and present rare opportunities to observe, study, and understand how genetic perturbations impact human immunity directly. I therefore clinically and genetically analyzed three …
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From Phenotype to Genotype: Discovery of New Molecular Primary Immunodeficiencies
… 1950s, the investigation of genetic causes of primary immunodeficiencies has fundamentally shaped our understanding of the immune system, and that fountain of knowledge has continued to expand explosively as we enter the genomic era with the dawn of CRISPR and personalized medicine. In this …
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Nuclease-Mediated Targeted Gene Insertion at the Adenosine Deaminase Locus in Primary Cells
… trial was for a patient with severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency. Initial trials looked promising and the technique was extended to other forms of primary immunodeficiency. Unfortunately, some of the patients enrolled in these trials using …
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Structural-based Investigation of FAK and P130Cas in Focal Adhesion
… many pathological conditions, including cancer, primary immunodeficiency diseases, vascular diseases, and mental retardation. Cell migration has been considered to be a three-step cyclic process including polarization, protrusion and retraction. The initiation and extension of the protrusion is …
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Adaptive Immune Responses to Vaccination Against SARS-CoV-2 in Individuals with Immune Dysregulation
… individuals with immune dysregulation, caused by primary immunodeficiency, immune checkpoint blockade therapies, and severe obesity, to mRNA vaccination against SARS-CoV-2 were assessed. Cellular immune responses, driven by cytotoxic CD8+ T cells, appeared to be robust and well maintained across …
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Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
… Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and cancer. Initial studies of purified wildtype or mutant PI3K complexes, utilising a modified PI3K fluorescence polarisation lipid kinase assay, established that SHORT …
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Natural and Exogenous Genome Editing In Wiskott-Aldrich Syndrome Patient Cells
<p>Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease characterized by thrombocytopenia, recurrent infections and increased autoimmunity. This disease is caused by mutations in the WAS gene (<em>WAS</em>) which encodes for the WAS protein (WASp), exclusively expressed in …
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