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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.9478_9482del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
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)).
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 9103416
Year published: 1997
Omia ID: 220
Omia variant ID: 511