An observational study in Immunologic Deficiency Syndromes and Primary Immune Deficiency (PID), sponsored by University Children's Hospital, Zurich. Recruiting at 1 site in Switzerland. Per ClinicalTrials.gov, last updated 2026-05-14.
Sponsored by University Children's Hospital, Zurich · Observational
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.
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.
The study population consists of pediatric patients (inpatients and outpatients) and individuals referred for immunological evaluation at the University Children's Hospital Zurich from national and international centers. To facilitate comparative analysis, the population also includes healthy biological relatives of these patients and healthy volunteers recruited from the Zurich area and across Switzerland.
Inclusion Criteria:
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: Skin Biopsy · Procedure: Mouth Swab or Saliva Collection · Procedure: Blood Sampling
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: Mouth Swab or Saliva Collection · Procedure: Blood Sampling
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: Mouth Swab or Saliva Collection · Procedure: Blood Sampling
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.
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.
Time frame: Through study completion, an average of 3 years
Plan to share: Yes — planned publication in peer reviewed journals (PubMed)
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Immunologic Deficiency Syndromes→
University Children's Hospital, Zurich