Disease overview

Severe combined immunodeficiency disease is an immune disorder characterized by an absence of white blood cell production, which is crucial for immune response. This disease affects both B-lymphocytes, which are responsible for the production of antibodies, as well as T-lymphocytes, which are used in immune response and signaling.

Gene name

PRKDC

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs may include lethargy, vomiting, diarrhea, and failure to thrive. Affected dogs typically have shorter lifespans, as they are highly susceptible to bacterial, viral, and parasitic infections.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory tests are needed to determine causes of infection. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

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. doi: 10.1016/s0378-1119(01)00880-0. PMID: 11867233.

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. doi: 10.1177/104063870201400302. PMID: 12033674.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.