Primary Immune Deficiency Disorder
Conditions
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.
Interventions
DIAGNOSTIC_TESTDiagnostic Test
Characterisation of cellular and functional phenotype in different PIDs
Sponsors
University of Zurich
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Characterisation of cellular phenotype in different PIDs | 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 | 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
| Measure | Time frame | Description |
|---|---|---|
| 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 | Targets for development of new Treatment for PID identfied by Primary outcome analyses (see above) can be pathways, Surface marker Expression or cytokine production. Therefore new Treatment developed might consist of medication interfering with cell activation pathways, cytokine production (e.g. inhibitory antibodies against specific cytokines) or Surface marker Expression (e.g. inhibitory or stimulatory ligands for certain cell Surface receptors) |
Countries
Switzerland
Contacts
CONTACTJanine Reichenbach, Prof. Dr.
CONTACTUlrich Siler, PD Dr.
PRINCIPAL_INVESTIGATORJanine Reichenbach, Prof. Dr.
University Children's Hospital, Zurich
Outcome results
None listed