Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Immunologic Deficiency Syndromes
- Sponsor
- University Children's Hospital, Zurich
- Enrollment
- 500
- Locations
- 2
- Primary Endpoint
- Number of patients with suspected PID for whom a genetic cause has been identified
- Status
- Recruiting
- Last Updated
- 2 years ago
Overview
Brief Summary
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
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patient with suspected PID, healthy relative or healthy volunteer
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Number of patients with suspected PID for whom a genetic cause has been identified
Time Frame: Through study completion, an average of 3 years
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.