Investigation of Immune Disorders and Deficiencies

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies

Conditions
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Primary Immune Deficiencies, Autoimmune Diseases, Inflammatory Diseases, Common Variable Immune Deficiencies, Hypogammaglobulinemia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subject is greater than or equal to 1 day of age and less than or equal to 100years of age Signed Informed Consent/Assent Subject is able and willing to comply with study protocol requirements From clinical or blood laboratory findings subject has evidence of immune abnormalities (or no immune abnormalities in the case of controls) or immune-mediated disease. Exclusion Criteria: Risk factors for donating blood (such as anemia or blood clotting disorders)

Ages Eligible for Study
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Minimum Age: 1 Day

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Immune deficiencies/Immune disorders<br>Patients with abnormal immune responses or potential primary immune deficiencies or immune disorders (allergies, autoimmune diseases) will be enrolled as the study group. | |
| No prior immune abnormalities<br>Patients with no prior immune abnormalities will be enrolled as the control group. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genetic variants | To elucidate genetic variants associated with various previously identified immune disorders to include but not limited to immune dysregulations, hypersensitivities, inflammatory conditions and deficiencies. | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Pathogenesis | To further elucidate pathogenesis of previously discovered immune disorders or subjects with suspected allergic/immunological disorders using cell surface and intracellular staining techniques using flow cytometry. | 10 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Primary immune deficiencies, Autoimmune diseases, Inflammatory diseases, Common variable immune deficiencies, Primary Immunodeficiencies, Immunoglobulin, IgG, IVIG, Recurrent Infections