Identification of New Inborn Errors of Immunity

University of Zurich300 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

300

Conditions

Primary Immune Deficiency Disorder

Interventions

Diagnostic TestDIAGNOSTIC_TEST

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

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

University Children's Hospital Zurich

Zurich, Switzerland

RECRUITING

Outcomes

Primary Outcomes

Identification of the genetic defects

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

Time frame: 10 years

Central Contacts

Janine Reichenbach, Prof. Dr.

CONTACT

+41442667311 janine.reichenbach@kispi.uzh.ch

Ulrich Siler, PD Dr.

CONTACT

+41442667311 ulrich.siler@kispi.uzh.ch

Data from ClinicalTrials.gov

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