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.
211 studies on the registry are indexed under Primary Immunodeficiency Diseases; 51 are open to participants now.
This study's planned enrollment of 500 is above the median of 137 across 77 observational studies indexed under Primary Immunodeficiency Diseases.
Browse Primary Immunodeficiency Diseases studies →University Children's Hospital, Zurich is the lead sponsor of 95 studies on the registry; 23 are open to participants now.
Compared within Primary Immunodeficiency Diseases, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Immunologic Deficiency Syndromes. The counts are of registry records indexed under each term, refreshed daily. How we classify →
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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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)
Started Feb 2016 (actual). Primary completion is estimated for Jul 2027, 137 months after the start.
Of 50 observational studies under Primary Immunodeficiency Diseases, half reached primary completion within 72 months of starting (the median), counting those still running; a quarter within 30. This study's planned 137 months is above that.
How these figures are worked out, and which studies are left out of them.
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Primary Immunodeficiency Diseases →
University Children's Hospital, Zurich