Pedigree research in families with Common Variable Immunodeficiency Disease.

• Conditions: 10021460; common variable immunodeficiency disease; late onset hypogammaglobulinemia; 10021429

• Registration Number: NL-OMON30598
• Lead Sponsor: Jeroen Bosch Ziekenhuis

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

*patients with CVID treated at the department of pediatrics of the Jeroen Bosch Hospital.
*genetic interesting relatives of the CVID patients, based on the family history and pedigree.
*relatives with suspicion of immunodeficiency based on clinical records.

Exclusion Criteria

Illness or recent infection (<2 weeks prior to inclusion).

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>1. With the help of department of clinical genetics: to make a pedigree of the<br /><br>two families with CVID to see if they are related to each other. Are there<br /><br>enough clues for genetic testing?<br /><br><br /><br>2. To determine immunologic parameters in CVID-patients and family members with<br /><br>recurrent infections or other symptoms of CVID. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. If there are enough clues for a genetic background of CVID in a family:<br /><br>genetic testing of known CVID-genes.<br /><br><br /><br>2. If a genetic mutation is found: is there a correlation between immunologic<br /><br>parameters and the found mutation?</p><br>