Activated PI3K/Akt-pathway immunophenotype
Conditions
Interventions
None listed
Sponsors
HagaZiekenhuis
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: - Age 1 month-18 years; - For subjects with Down syndrome: diagnosis by chromosomal analysis; - For healthy age-matched controls: undergoing a minor surgical procedure; - Weight >5 kg; - Informed consent from parent(s)/caregiver(s) with legal custody and/or the subject (according to the WGBO).
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: - Any active infectious disease (viral or bacterial), excluding mild upper respiratory tract infections without fever; - Any type of malignancies, including lymphoproliferative disease (except of squamous or basal cell carcinoma of the skin that has been treated with no evidence of recurrence); - Mosaic Down Syndrome; - Current treatment with prophylactic antibiotics, monoclonal antibodies or immunosuppressant*s; - Auto-immune diseases other than those associated with Down Syndrome; - For healthy individuals: known with recurrent respiratory tract infections (RRTIs) and/or getting ear, nose or throat (ENT) surgery because of this reason.
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| B- and T-cell subset abnormalities, rate of apoptosis, exhaustion present in lymphocytes and immunoglobulines. | — |
Primary
| Measure | Time frame |
|---|---|
| Deregulated AKT phosphorylation assays in both groups. | — |
Countries
Netherlands
Outcome results
None listed