Identification of New Inborn Errors of Immunity

Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing.

Transcriptome analysis of patients with molecularly undetermined PID.

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Key information

Conditions

Primary Immune Deficiency Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

University Children's Hospital Zurich

Zurich, 8032, Switzerland

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Primary outcomes

Identification of the genetic defects

Time frame: 10 years

Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency

Sponsors and collaborators

Lead sponsor

University of Zurich

Other

Registry information

Official study title

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing

Important dates

Study start: 2016
Primary completion: 2025
Study completion: 2025
First posted: Jan 30, 2018
Registry last updated: May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed