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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48185

Enrollment

Registered

2019-05-09

Start date

2019-05-20

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Common Variable Immunodeficiency

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
Disturbances in the composition of the blood B cell compartment with special attention for the absolute numbers and relative distribution of naive B cells, memory B cells, plasma cells and their various subsets.	—

Secondary

Measure	Time frame
How these aberrancies are distributed over the family members and whether the ab-errant B-cell and T-cell patterns are comparable between family members; To select families eligible for a new study to investigate the genetic background and pathophysiology of CVID.	—

Countries

Netherlands

Outcome results