Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies
试验速览
- 阶段
- 不适用
- 入组人数
- 343
- 试验地点
- 1
- 主要终点
- Genetic variants
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Day 至 —(Child, Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •Risk factors for donating blood (such as anemia or blood clotting disorders)
结局指标
主要结局
Genetic variants
时间窗: 10 years
To elucidate genetic variants associated with various previously identified immune disorders to include but not limited to immune dysregulations, hypersensitivities, inflammatory conditions and deficiencies.
次要结局
- Pathogenesis(10 years)
研究者
Oral Alpan
Principal Investigator
O & O Alpan LLC
