Using pedigree research in two CVID-families to find clues for genetic testing.
ID
Source
Brief title
Condition
- Immune system disorders congenital
- Immunodeficiency syndromes
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. With the help of department of clinical genetics: to make a pedigree of the
two families with CVID to see if they are related to each other. Are there
enough clues for genetic testing?
2. To determine immunologic parameters in CVID-patients and family members with
recurrent infections or other symptoms of CVID.
Secondary outcome
1. If there are enough clues for a genetic background of CVID in a family:
genetic testing of known CVID-genes.
2. If a genetic mutation is found: is there a correlation between immunologic
parameters and the found mutation?
Background summary
Early identification of children with a primary immunodeficiency (PID) in the
large pool of children presenting with recurrent infections is not an easy
task, but important for their prognosis. A delay in diagnosis is associated
with considerable morbidity and increased mortality. The most common PID is
Common Variable Immunodeficiency (CVID). Once a CVID has been established on
clinical grounds, genetic identification of the defect is possible. A detailed
family history can help to unravel the mode of inheritance in a family, and
enables the attending physician to select the appropriate family members for
genetic testing.
Study objective
Using pedigree research in two CVID-families to find clues for genetic testing.
Study design
Observational study.
Study burden and risks
Per visit per person: 30 minutes. One to two blood samples are taken. Risk:
hematoma associated with punction.
postbus 90153
5200 ME 's-Hertogenbosch
Nederland
postbus 90153
5200 ME 's-Hertogenbosch
Nederland
Listed location countries
Age
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).
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL15096.028.06 |