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Severe Combined Immunodeficiency Disease (Terrier Type)
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,
