Severe Combined Immunodeficiency Disease (Wetterhoun Type)

Other Names: Combined immunodeficiency disease, SCID
Affected Genes: RAG1
Inheritance: Autosomal Recessive
Mutation: chr18:31631772 (canFam3): G>T
Breed(s): Wetterhoun

Add To Cart Search Tests

Common Symptoms

Severe combined immunodeficiency (wetterhoun type) is an inherited disease affecting wetterhouns. Affected dogs 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 around 7 to 8 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting, Ataxia, seizures, blindness and lack of palpable lymph nodes. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected dogs die within 4 months of age.

Testing Tips

Genetic testing of the RAG1 gene will reliably determine whether a dog is a genetic Carrier of severe combined immunodeficiency disease (wetterhoun type). Severe combined immunodeficiency disease (wetterhoun type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier of the RAG1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • 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. [PubMed: 21293384]