Dissection of the blood B cell compartment in affected and non-affected family members of patients with Common Variable Immunodeficiency (CVID).

Recruiting

Conditions: Common Variable Immunodeficiency
10021460

Registration Number: NL-OMON48185

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 50

Inclusion Criteria

In order to be eligible to participate in this study, a subject must meet all of the following criteria:;Inclusion criteria for the index case
- ESID-defined probable or possible CVID patients with or without positive family history for CVID according to the ESID registry (2014) criteria;Inclusion criteria for the family members
- Siblings (> 16 years of age), parents and grandparents
- Each participating family member will have to provide informed consent in order for the family to be eligible for inclusion.

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded from participation in this study:
- ESID-defined CVID patients having a known mono-genetic cause of CVID disease
- ESID-defined CVID patients having another mono-genetic disorder not obvious related to CVID
- ESID-defined CVID patients having a chromosomal defect
- Infections within 3 months prior to this study
- Surgeries within 6 months prior to this study
- Vaccinations within 3 months prior to this study
- Family members having significant disorders, including other immunodeficiency other than CVID, cancer, oral steroid therapy or any history of any comorbidity that, in the opinion of the investigator, might confound the results of the study

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Disturbances in the composition of the blood B cell compartment with special<br /><br>attention for the absolute numbers and relative distribution of naive B cells,<br /><br>memory B cells, plasma cells and their various subsets. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>How these aberrancies are distributed over the family members and whether the<br /><br>ab-errant B-cell and T-cell patterns are comparable between family members;<br /><br><br /><br>To select families eligible for a new study to investigate the genetic<br /><br>background and pathophysiology of CVID.</p><br>