Pathophysiology of Inborn Immunodeficiencies

Study Overview
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Brief Summary
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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.

Official Title
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Pathophysiologie Angeborener Immundefekte

Conditions
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Primary Immune Deficiency Disorder

Intervention / Treatment
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* Diagnostic Test: Diagnostic Test


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patient<br>Patients with Primary Immunodeficiency | Diagnostic Test: Diagnostic Test<br>* Characterisation of cellular and functional phenotype in different PIDs<br>|
| Control<br>Healthy Controls | Diagnostic Test: Diagnostic Test<br>* Characterisation of cellular and functional phenotype in different PIDs<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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) | immediately after sampling of biological specimen or up to 10 years later from frozen samples |