X-chromosomale schwere Immundefizienz
X-chromosomal severe immuno defiziency (X-SCID)
General description
Von Willebrand disease (vWD) is a bleeding disorder caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF) Symptoms of vWD are highly heterogeneous from mild bleeding to severe life-threatening blood loss and may be aggravated by mental or physical stress. The clinical expression of canine vWD type 3 is generally severe.
Breeds
Basset Hound, Cardigan Welsh Corgi, Pembroke Welsh Corgi, Welsh Corgi (Cardigan/Pembroke)
Detailed description
The X-linked severe combined Immunodeficiency (X-SCID) causes serious defects in cellular and humoral immunity. Affected dogs suffer from developmental disorder, increased responsiveness for viral and bacterial pathogens and degeneration of peripheral lymph nodes. The dogs die at the age of four month. The source of the disease founds on a gene mutation in the interleukin-2-receptor region. For Bassets a deletion of four bases could be found, while Welsh Corgis posses an addition of one base in the gene. These mutations avert the formation of a functional receptor which normally binds to interleukin-2 and thereby causes the cells to proliferate.
X-chromosomal severe immuno defiziency (X-SCID)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8063 |
| 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 |
| Causality | causally |
| Gene | IL2RG |
| Mutation | DEL |
| Literature | OMIA:000899-9615 |
X-chromosomal severe immuno defiziency (X-SCID)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8063 |
| 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 |
| Causality | causally |
| Literature | OMIA:000899-9615 |
