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

RAG1

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

Frisian Water Dog

Citations

Verfuurden B, Wempe F, Reinink P, van Kooten PJ, Martens E, Gerritsen R, Vos JH, Rutten VP, Leegwater PA. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun. 2011 Jun;12(4):310-3. doi: 10.1038/gene.2011.6. Epub 2011 Feb 3. PMID: 21293384.

Disclaimer

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