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Severe Combined Immunodeficiency (Frisian Water Dog)

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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,

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