Investigation of 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 Immune Deficiencies
Common Variable Immune Deficiencies
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies|
- Genetic variants [ Time Frame: 10 years ] [ Designated as safety issue: No ]To elucidate genetic variants associated with various previously identified immune disorders to include but not limited to immune dysregulations, hypersensitivities, inflammatory conditions and deficiencies.
- Pathogenesis [ Time Frame: 10 years ] [ Designated as safety issue: No ]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.
Biospecimen Retention: Samples With DNA
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||December 2016|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
Immune deficiencies/Immune disorders
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
Patients with no prior immune abnormalities will be enrolled as the control group.
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.
|Contact: Oral Alpan, MDfirstname.lastname@example.org|
|Contact: Chidima Martin, BSemail@example.com|
|United States, Virginia|
|O&O Alpan LLC||Recruiting|
|Fairfax, Virginia, United States, 22030|
|Contact: Chidima Martin, BS 571-308-1905 firstname.lastname@example.org|
|Contact: Denise Loizou, RN 571-308-1900 email@example.com|
|Principal Investigator: Oral Alpan, MD|
|Sub-Investigator: Ozlem Goker-Alpan, MD|
|Principal Investigator:||Oral Alpan, MD||O & O Alpan LLC|