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Severe Combined Immunodeficiency Disease (SCID)
Breed: Parson Russell Terrier
Generic Phene Data
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Severe Combined Immunodeficiency Disease (SCID)
OMIA
220
Gene Name
PRKDC
Mutation
c.10828G>T
Mutation 2
g.32195051del
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.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
DNA-PKcs
Mutation
c.10828G>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
SCID
Gene Name
PRKDC
Mutation
c.10849G>T
Mutation Comment
g.49588C>A
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