Severe Combined Immuno Deficiency (SCID) – Horse
Code: P704
Short description
Severe Combined Immunodeficiency Disease (SCID) in Arabian horses is a recessively inherited disorder that results in affected foals being born without a working immune system.
General information
Severe Combined Immunodeficiency Disease (SCID) in Arabian horses is a recessively inherited disorder that results in affected foals being born without a working immune system. These foals typically die of an infection, such as pneumonia, within the first half year of life. SCID is caused by a defective PRKDC gene (previously known as DNA-PK(CS)).
Specifications
| Breeds | |
|---|---|
| Gene | PRKDC |
| Chromosome | 9 |
| Mutation | c.9478_9482del |
| Organ | Respiratory System |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected foals appear normal at birth. By about 10 days of age, they will develop symptoms of a range of infections, such as bronchopneumonia, diarrhea, colic or lameness.
References
Pubmed ID: 9103416
Year published: 1997
Omia ID: 220
Omia variant ID:
Turnaround information
- 20 working days