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Severe Combined Immunodeficiency Disease (Terrier Type)

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Test Overview:

Severe Combined Immunodeficiency Disease (Terrier Type) affects dogs and is an inherited disease. Dogs affected with this disorder are unable to produce a protein important for proper immune function, predisposing them to severe recurrent or chronic bacterial, viral and fungal infections. Affected dogs often present with symptoms of disease including failure to thrive, poor growth, weight loss, lethargy, diarrhoea, vomiting and lack of palpable lymph nodes around 12 to 14 weeks of age. Affected dogs may also present with active respiratory, skin, eye or ear infections. Puppies may die shortly after vaccination with modified live vaccines. Affected dogs die within 4 months of age.

Category:

Immunologic - Associated with the organs and cells of the immune system

Gene:

PRKDC

Variant Detected:

chr29:49588: G>T

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

Recommended Screening:

Genetic testing of the PRKDC gene will reliably determine if a dog is a genetic carrier of severe combined immunodeficiency (terrier type).

Research Citation(s):

Bell TG, Butler KL, Sill HB, Stickle JE, Ramos-Vara JA, Dark MJ. Autosomal recessive severe combined immunodeficiency of Jack Russell terriers. J Vet Diagn Invest. 2002 May; 14(3):194-204. [PubMed: 12033674] 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. 2002 Jan 23; 283(1-2):263-9. [PubMed: 11867233]

Associated Breed(s):

Jack Russell Terrier, Parson Russell Terrier,

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