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Breeds
Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
General
Disease Name
Severe Combined Immunodeficiency Disease (SCID)
Mutation
c.10828G>T
Test Type
Genetic Disease/Disorder
Details
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Details 2
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Published
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.
