Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
University Children's Hospital, Zurich
500 participants
Feb 1, 2016
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- Patients: Pediatric patients (in/outpatient or referred) with suspected or confirmed Inborn Errors of Immunity.
- Relatives: Healthy or affected biological relatives of enrolled patients.
- Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease.
- Consent: Ability to provide signed informed consent (or guardian consent).
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Interventions
A punch biopsy of the skin and underlying connective tissue is performed to establish fibroblast cultures. For pediatric patients, the procedure is conducted while the patient is under general anesthesia for other clinical indications. For adult patients, the biopsy is performed under local anesthesia as needed. This intervention follows cosmetic/aesthetic considerations and is therefore typically collected from the inner aspect of the upper arm.
Non-invasive collection of epithelial cells via a swab of the buccal mucosa (inner cheek) to obtain biological material for comparative genetic analysis with minimal burden.
Collection of nucleated blood cells, serum, and plasma from blood and subsequent genetic testing, functional assays, as well as antibody and cytokine measurements. To minimize risk and burden, blood sampling in pediatric patients is opportunistic (performed during routine clinical diagnostics or while under anesthesia) and capped at 1% of total blood volume per sampling and 3% over a 4-week period (adjusted by body weight). In adult patients, up to 50mL venous blood is sampled, typically performed during clinic visits or routine check-ups.
Locations(1)
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NCT02735824