common variable immunodeficiency disease late onset hypogammaglobulinemia
Conditions
Interventions
None listed
Sponsors
Jeroen Bosch Ziekenhuis
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
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
Exclusion criteria: Illness or recent infection (
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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? | — |
Countries
Netherlands
Outcome results
None listed