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The use of oligonucleotide gene expression profiling to investigate a molecular classification of Common Variable Immunodeficiency

El-Shanawany, Tariq 2011. The use of oligonucleotide gene expression profiling to investigate a molecular classification of Common Variable Immunodeficiency. MD Thesis, Cardiff University.
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Abstract

Common variable immunodeficiency (CVID) is a primary antibody deficiency of unknown aetiology, the diagnosis of which is made by the exclusion of known causes of hypogammaglobulinaemia. In addition to recurrent and severe infections patients demonstrate a variable phenotype which may include other features such as granuloma and autoimmunity. Given the heterogeneous nature of this condition it appears likely that the label CVID encompasses a number of different conditions. The ability to classify CVID subgroups would be advantageous both clinically and from the research point of view. Accurate subgroup classification would allow the targeting of monitoring and treatment to those patients most at risk of complications. Furthermore, current research into the pathogenesis of CVID is hindered by the grouping of clinically and biologically distinct conditions together. To date, attempts at classification, such as by flow cytometry, have failed to accurately demarcate subgroups. A total of 53 CVID patients were recruited to the study, and peripheral blood RNA was extracted, stored and analysed by gene expression microarray technology. The clinical and immunological data pertaining to these patients was gathered, analysed and used to allow bioinformatic analysis of the microarray data. The clinical data demonstrated a statistically significant tendency for some of the non-infective complications of CVID to cluster together, possibly suggesting a separate clinical subgroup. Flow cytometric analysis showed that in addition to previously described B and CD4+ T cell phenotyping, CD8+ phenotyping may be potentially useful and there was a correlation between decreased proportions of naïve CD8+ T cells and the presence of granulomatous disease. The analysis of the microarray data demonstrated a number of processes where there was differential gene expression between the clinical phenotypes, for example genes involved in the response to IL-1 in patients with granulomatous disease. Differential expression of genes involved in apoptosis was of particular interest and a consistent finding in the granuloma, autoimmunity and any complication subgroups.

Item Type: Thesis (MD)
Status: Unpublished
Schools: Medicine
Subjects: Q Science > QR Microbiology > QR180 Immunology
R Medicine > R Medicine (General)
Date of First Compliant Deposit: 30 March 2016
Last Modified: 04 Jun 2017 04:22
URI: http://orca.cardiff.ac.uk/id/eprint/37713

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