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Severe Combined Immunodeficiency (Frisian Water Dog)
Test Overview:
Severe combined immunodeficiency (SCID) is a rare immune disorder characterised by the inability to fight recurrent systemic or localised infections of the eye, ear or respiratory system. Symptoms include: unsteadiness, blindness, diarrhea and seizures. Death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Category:
Immunologic - Associated with the organs and cells of the immune system
Gene:
RAG1
Variant Detected:
c.2893G>T
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Ding, Q., Bramble, L., Yuzbasiyan-Gurkan, V., Bell, T., Meek, K. : DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Pubmed reference: 11867233.
Associated Breed(s):
Frisian Water Dog, Mixed Breed,
