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Severe Combined Immunodeficiency Disease (Terrier Type)

Severe Combined Immunodeficiency Disease (SCID) in Terriers is a fatal genetic disorder that impairs immune function, leaving affected dogs highly susceptible to infections.

Affected Genes: PRKDC

Inheritance: Autosomal Recessive

Variant(canFam6):
chr29:472779: C>A

Breed: Jack Russell Terrier
Parson Russell Terrier
Russell Terrier

General Information: Severe Combined Immunodeficiency Disease (SCID) in Terriers is characterized by an absence of functional immune response, making affected dogs extremely vulnerable to a variety of infectious diseases. Symptoms typically emerge between 12 to 14 weeks of age as puppies begin to encounter environmental pathogens. Common manifestations include failure to thrive, persistent infections despite treatment, and severe complications following routine vaccinations, particularly with live vaccines. Clinical signs include weight loss, lethargy, and recurrent diarrhea, respiratory, skin, and ear infections. Due to their compromised immune systems, affected puppies often succumb to infections by four months of age, highlighting the severity and rapid progression of the disease.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Severe Combined Immunodeficiency (SCID) in Terriers targets mutations in the PRKDC gene, which plays a crucial role in DNA repair and immune cell development. The disease follows an autosomal recessive inheritance pattern, meaning that a dog must inherit two defective copies of the gene—one from each parent—to show symptoms of the disease. Carrier dogs, possessing only one faulty gene, do not display any symptoms but can pass the mutation to their offspring. A mating between two carriers results in a 25% chance of producing affected offspring and a 50% chance of producing carriers. To prevent the birth of affected puppies and to manage the propagation of this genetic trait, it is advised not to breed two carriers of the mutation. Genetic testing is essential for responsible breeding decisions, allowing breeders to identify carriers and adjust mating plans to ensure the health of future litters. This proactive approach is vital to reducing the incidence of this debilitating disease in the Terrier population.

References:
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 14(3):194-204.

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 283(1-2):263-269.