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Severe Combined Immunodeficiency Disease (Terrier Type)

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Category:

Immunologic - Associated with the organs and cells of the immune system

Gene:

PRKDC

Variant Detected:

Chr. 29: c.10849G>T p.(E3617*)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/12033674/

Associated Breed(s):

Jack Russell Terrier, Parson Russell Terrier,

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