Investigation of Immune Disorders and Deficiencies
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Other Indications, Infectious Disease, HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/5/2017 |
| Start Date: | December 2012 |
| End Date: | December 2018 |
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.
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.
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.
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)
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