Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)
Deep immuno-phenotyping to identify precision medicine targets in adult and paediatric patients with Combined Immunodeficiency
Year Started: 2016
Primary Immunodeficiencies (PIDs) are rare inherited diseases of the immune system that may lead to recurrent infections, malignancy or autoimmunity, all with a significantly impaired quality of life. There are currently over 200 different PIDs with approximately 250 different genes linked to these disorders. Through the NIHR/Wellcome Trust Southampton Clinical Research Facility for Experimental Medicine and Translational Medicine Laboratory, we will perform deep-phenotyping (detailed examination of possible pertinent findings of gene tests) of 20 patients with PID to gain additional understanding of the cause each patients’ rare immunological disease. This greater understanding will hopefully identify novel therapeutic targets and the initiation of personalised treatments. Previously at our centre we have shown that, by this approach, we can commence precision therapeutics for patients with PID that substantially reduced morbidity and mortality.
- Access:
- Access restricted at present
- Type:
- Disease specific
- Status:
- In progress
- Consent restrictions:
- Commercial restriction, Xenograft restriction
| Associated Data Type | Procurement Timeframe |
|---|---|
| Biomarker datasets | > 6 months |
| Clinical records | > 6 months |
| Followup records | > 6 months |
| Genomic datasets | > 6 months |
| Pathology records | > 6 months |
| Quality indicators | > 6 months |
| Treatment records | > 6 months |
| Donor Ethnicity | > 6 months |
Male
Young adult (18 - 40 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Female
Adult (> 40 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Male
Adult (> 40 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Female
Young adult (18 - 40 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Female
Adolescent (12 - 18 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Male
Adolescent (12 - 18 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Female
Child (6 - 12 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Male
Child (6 - 12 years)
11 - 100 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Whole blood | -60°C to -85°C | Not applicable | 100% | ||
| Serum | -60°C to -85°C | Not applicable | 100% | ||
| Plasma | -60°C to -85°C | Not applicable | 100% | ||
| RNA | -60°C to -85°C | Not applicable | 100% | ||
| Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |