Identification of New Inborn Errors of Immunity
Overview
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing. Transcriptome analysis of patients with molecularly undetermined PID.
Full Title of Study: “Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing”
Study Type
- Study Type: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: August 15, 2025
Interventions
- Diagnostic Test: Diagnostic Test
- Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing Transcriptome analysis of patients with molecularly undetermined PID
Arms, Groups and Cohorts
- Patients with PID
Clinical Trial Outcome Measures
Primary Measures
- Identification of the genetic defects
- Time Frame: 10 years
- Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency
Participating in This Clinical Trial
Inclusion Criteria
- Patients with primary immunodeficiency (PID) – Male and Female participants 0 years to adult age (any) – Written informed consent by the participant after information about the research project Exclusion Criteria:
- Secondary immunodeficiency – Refusal to enter the study
Gender Eligibility: All
Minimum Age: N/A
Maximum Age: N/A
Are Healthy Volunteers Accepted: Accepts Healthy Volunteers
Investigator Details
- Lead Sponsor
- University of Zurich
- Provider of Information About this Clinical Study
- Principal Investigator: Janine Reichenbach, Co-Head Division Immunology – University of Zurich
- Overall Official(s)
- Janine Reichenbach, Prof. Dr., Principal Investigator, University Children’s Hospital, Zurich
- Overall Contact(s)
- Janine Reichenbach, Prof. Dr., +41442667311, janine.reichenbach@kispi.uzh.ch
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