Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

Study Overview
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Brief Summary
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Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.

Detailed Description
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Patients with a suspected immunodeficiency will be identified and invited to participate. Upon agreement, an additional blood sample will be collected when they have their routine bloods taken. If the study participants undergoes anaesthesia for any other reason, a small skin biopsy will be taken as well. Additional samples including blood samples or mouth swabs will be taken from healthy family members. Blood from healthy controls will only be taken when there is a clinical need for blood sampling (or when the study participant is already anaesthetised for any other reason) and not for research purposes only.

Official Title
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Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

Conditions
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Immunologic Deficiency Syndromes

Intervention / Treatment
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* Procedure: blood sampling and skin biopsy
* Procedure: blood sampling or mouth swap
* Procedure: blood sampling


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient with suspected PID, healthy relative or healthy volunteer consent Exclusion Criteria: none
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 |
| --- | --- |
| patients with suspected PID<br>From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. | Procedure: blood sampling and skin biopsy<br>* Nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.<br>|
| healthy relatives of patients with PID<br>From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID. | Procedure: blood sampling or mouth swap<br>* specimen will be used for genetic testing, results compared to patients<br>|
| Healthy volunteers<br>From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID. | Procedure: blood sampling<br>* Nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of patients with suspected PID for whom a genetic cause has been identified | Number of patients with suspected primary immunodeficiency included in the study for whom a diagnosis can be made with the genetic and functional data obtained from patients, their relatives and healthy volunteers. | Through study completion, an average of 3 years |