Immunologic Deficiency Syndromes, Primary Immune Deficiency (PID)
Conditions
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.
Interventions
PROCEDUREMouth Swab or Saliva Collection
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.
PROCEDURESkin Biopsy
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.
PROCEDUREBlood Sampling
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.
Sponsors
University Children's Hospital, Zurich
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* 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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients with suspected PID for whom a genetic cause has been identified | 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. |
Countries
Switzerland
Contacts
CONTACTJana M Pachlopnik Schmid, MD PhD
PRINCIPAL_INVESTIGATORJana M Pachlopnik Schmid, MD PhD
University Children's Hospital, Zurich
Outcome results
None listed