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Severe Combined Immunodeficiency Disease (SCID)

35,00 

→ Fatal infections due to a deficient immune response.


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Product Information

Affected breeds: Arabian Horse and related breeds
Test #: H111
Description: Severe Combined Immunodeficiency Disease Genetic Testing

This test detects the deletion in the DNAPK gene.

Samples: Hair, Blood
Time: 10 – 14 days

General Information

  • Foals appear healthy at birth, but usually die of infection within the first 6 months.
  • Improper development of cells of the immune system (T- and B cells) causes severe, non-specific infections → usually fatal.

Symptoms

  • Severe infections

Inheritance and Genotypes

→ SCID is an autosomal recessive hereditary disease, meaning that horses with only one copy of the genetic variant (N/scid) are clinically normal carriers while horses with two copies of the genetic variant (scid/scid) are affected.

Genotype: The horse is: Effects:
N/N normal. The horse does not have any copies of the genetic variant causative for SCID and therefore cannot pass it on to any offspring.
N/scid a carrier.
The horse is clinically normal. The genetic variant causative for SCID will be passed on to its offspring with a probability of 50%. These foals will also be carriers (N/scid).
scid/scid affected. If the horse lives long enough to reproduce, the variant will be passed on to all offspring. All offspring will be carriers (N/scid).

Recommendations

  • Carriers may be bred to normal animals (N/scid x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/scid x N/scid) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (scid/scid) should not be used for breeding.

References

Shin, E.K., Perryman, L.E., Meek, K.: A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol 158:3565-9, 1997. Pubmed reference: 9103416.

Further information is available at Online Mendelian Inheritance in Animals.

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