Schwere kombinierte Immundefizienz (SCID)
Severe combined immunodeficiency (SCID)
General description
The severe combined immunodeficiency (SCID) is associated with very low levels of immunoglobulins and lymphocytes and therefore causes serious failing in cellular and humoral immunity. Affected dogs show increased susceptibility for viral and bacterial pathogens and die of opportunistic infection at the age of 8 – 12 weeks.
Breeds
Frisian Water Dog, Jack Russell Terrier, Parson Russell Terrier
Detailed description
The severe combined immunodeficiency (SCID) is associated with very low levels of immunoglobulins and lymphocytes and therefore causes serious failing in cellular and humoral immunity. Affected dogs show increased susceptibility for viral and bacterial pathogens and die of opportunistic infection at the age of 8 – 12 weeks. The causal mutation in Frisian Water Dogs is a point mutation in the RAG1 gene, while in Jack Russell Terriers there is a point mutation in the canine DNA-PKcs gene.
Severe Combined Immunodeficiency (SCID) - Frisian Water Dog
The causal mutation in Frisian Water Dogs is a point mutation in the RAG1 gene.
Order details
| Test number | 8328 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | immunological |
| Age of onset | 8-12 weeks |
| Causality | causally |
| Gene | RAG1 |
| Mutation | C-A |
| Literature | OMIA:001574-9615 |
Severe Combined Immunodeficiency (SCID) - Russell Terrier
In Jack Russell Terriers, the causal variant is a point mutation in the canine DNA-PKcs gene.
Order details
| Test number | 8328 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | immunological |
| Age of onset | 8-12 weeks |
| Causality | causally |
| Gene | PRKDC |
| Mutation | C-A |
| Literature | OMIA:000220-9615 |
