Pathophysiologie Angeborener Immundefekte
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Primary Immune Deficiency Disorder
- Sponsor
- University of Zurich
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Characterisation of cellular phenotype in different PIDs
- Status
- Recruiting
- Last Updated
- 8 years ago
Overview
Brief Summary
The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.
Investigators
Janine Reichenbach
Co-Head Division Immunology
University of Zurich
Eligibility Criteria
Inclusion Criteria
- •Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
- •Clinically healthy (non-age matched) volunteer
Exclusion Criteria
- •exclusion of an inborn error of immunity
- •secondary immunodeficiency
- •refusal to enter the study
Outcomes
Primary Outcomes
Characterisation of cellular phenotype in different PIDs
Time Frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways
Characterisation of functional phenotype in different PIDs
Time Frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Immune cell subsets will be analysed for cytokine production or cell activation pathways
Secondary Outcomes
- Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo(immediately after sampling of biological specimen or up to 10 years later from frozen samples)