Pathophysiology of Inborn Immunodeficiencies

Pathophysiologie Angeborener Immundefekte

The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.

Study Overview

• Status: Recruiting
• Conditions: Primary Immune Deficiency Disorder
• Intervention / Treatment: Diagnostic test: Diagnostic Test

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Janine Reichenbach, Prof. Dr.; Phone Number: +41442667311; Email: janine.reichenbach@kispi.uzh.ch
• Study Contact Backup: Name: Ulrich Siler, PD Dr.; Phone Number: +41442667311; Email: ulrich.siler@kispi.uzh.ch

Study Locations

• Switzerland
  • Zurich, Switzerland, 8032
    • Recruiting
    • University Children's Hospital Zurich
    • Contact: Janine Reichenbach, Prof. Dr.; Phone Number: +41442667311; Email: janine.reichenbach@kispi.uzh.ch
    • Contact: Ulrich Siler, PD Dr.; Phone Number: +41442667311; Email: ulrich.siler@kispi.uzh.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting

Description

Inclusion Criteria:

• Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
• Clinically healthy (non-age matched) volunteer

Exclusion Criteria:

• exclusion of an inborn error of immunity
• secondary immunodeficiency
• refusal to enter the study

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Control; Healthy Controls	Diagnostic test: Diagnostic Test; Characterisation of cellular and functional phenotype in different PIDs
Patient; Patients with Primary Immunodeficiency	Diagnostic test: Diagnostic Test; Characterisation of cellular and functional phenotype in different PIDs

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Characterisation of cellular phenotype in different PIDs	Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways	immediately after sampling of biological specimen or up to 10 years later from frozen samples
Characterisation of functional phenotype in different PIDs	Immune cell subsets will be analysed for cytokine production or cell activation pathways	immediately after sampling of biological specimen or up to 10 years later from frozen samples

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo	Targets for development of new Treatment for PID identfied by Primary outcome analyses (see above) can be pathways, Surface marker Expression or cytokine production. Therefore new Treatment developed might consist of medication interfering with cell activation pathways, cytokine production (e.g. inhibitory antibodies against specific cytokines) or Surface marker Expression (e.g. inhibitory or stimulatory ligands for certain cell Surface receptors)	immediately after sampling of biological specimen or up to 10 years later from frozen samples

Collaborators and Investigators

• Sponsor: University of Zurich
• Investigators: Principal Investigator: Janine Reichenbach, Prof. Dr., University Children's Hospital, Zurich

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2015
• Primary Completion (Estimated): March 30, 2033
• Study Completion (Estimated): March 30, 2033

Study Registration Dates

• First Submitted: January 10, 2018
• First Submitted That Met QC Criteria: January 29, 2018
• First Posted (Actual): February 6, 2018

Study Record Updates

• Last Update Posted (Actual): May 6, 2026
• Last Update Submitted That Met QC Criteria: May 5, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Immune System Diseases; Immunologic Deficiency Syndromes; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Primary Immunodeficiency Diseases; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Tests, Routine
• Other Study ID Numbers: Patho_PID

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No