Primary Immunodeficiencies: immunological and genetic background in relation to clinical complications

Recruiting

• Conditions: immune disorders; primary immune deficiencies; 10021460; 10027946

• Registration Number: NL-OMON55725
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 1500

Inclusion Criteria

Patients: a diagnosis of a clinically relevant primary immunodeficiency or a
strong suspicion of a diagnosis of primary immunodeficiency
Healthy controls: healthy family or household members and/or friends of patients
Both groups: informed consent

Exclusion Criteria

No consent

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Ad 1. prospective follow up study.<br /><br>- Survival data<br /><br>- Occurrence of complications, predominantly in the pulmonary, gastro<br /><br>intestinal, hematological tracts, as well as the occurrence of malignancies<br /><br>- These data will be related to clinical and laboratory phenotype<br /><br><br /><br>Ad 2. improved diagnostics.<br /><br>- Genetic and associated functional defects causative of primary<br /><br>immunodeficiencies. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Ad 1. prospective follow up study.<br /><br>- Quality of life parameters<br /><br>- Enhanced understanding of the healthy (mucosal) immune system<br /><br><br /><br>Ad 2. improved diagnostics.<br /><br>- No secondary study outcome parameters. </p><br>