Autoimmune Diseases Clinical Trial
Official title:
Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies
The immune system is an intricate system comprised of specialized cells, proteins, tissues
and organs. Proper functioning is critical to the body's ability to defend itself against
harmful pathogens. Immunological disorders and deficiencies are defects in the immune system
that lead to abnormal immune responses. Abnormal immune responses could be derived from
immune deficiencies, dysregulations or hypersensitivities.
The overall goal of this research study is to identify the mechanisms of primary immune
deficiencies and immune disorders at the genetic, cellular and molecular level, using novel
analytic techniques to be performed on immune cells derived from blood samples. The
knowledge gained from the aims of this study could lead to better diagnostics and identify
novel targets for therapeutic interventions.
Primary immunodeficiency diseases (PID) represent a class of disorders in which there is an instrinsic defect in the human immune system. The PID could be caused by defects or perturbations in either the innate or adaptive immune cells, such as B cell defects which result in lack of antibodies. Research in this topic remains a difficult feat due factors such as genetic heterogeneity and the gene-environment interface. Limitations of standard of care testing leads to many patients with immunological problems to be undiagnosed. In addition to the variety of primary immune deficiencies, there are large number of immune system disorders due to various perturbations in the immunological components that cause diseases with much greater prevalence such as autoimmune diseases, lymphoproliferative diseases, chronic inflammation and certain cancers. The causes of these immune disorders are typically more complex than PID but there are also many overlaps in immune hyper-activation and deficiency. ;
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