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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient | Patients with Primary Immunodeficiency |
| |
| Control | Healthy Controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnostic Test | Diagnostic Test | Characterisation of cellular and functional phenotype in different PIDs |
|
| Measure | Description | Time Frame |
|---|---|---|
| Characterisation of cellular phenotype in different PIDs | Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways | immediately after sampling of biological specimen or up to 10 years later from frozen samples |
| Characterisation of functional phenotype in different PIDs | Immune cell subsets will be analysed for cytokine production or cell activation pathways | immediately after sampling of biological specimen or up to 10 years later from frozen samples |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo | 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) |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Janine Reichenbach, Prof. Dr. | Contact | +41442667311 | janine.reichenbach@kispi.uzh.ch | |
| Ulrich Siler, PD Dr. | Contact | +41442667311 | ulrich.siler@kispi.uzh.ch |
| Name | Affiliation | Role |
|---|---|---|
| Janine Reichenbach, Prof. Dr. | University Children's Hospital, Zurich | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Children's Hospital Zurich | Recruiting | Zurich | 8032 | Switzerland |
We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings
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| ID | Term |
|---|---|
| D000081207 | Primary Immunodeficiency Diseases |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |
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| ID | Term |
|---|---|
| D003955 | Diagnostic Tests, Routine |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| immediately after sampling of biological specimen or up to 10 years later from frozen samples |