|Mutation:||chrX:55483459-55483460: 1 bp insertion (ins C)|
|Breed(s):||Cardigan Welsh Corgi, Pembroke Welsh Corgi|
X-linked severe combined immunodeficiency (corgi type) is an inherited disease affecting dogs. 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 6 to 8 weeks of age including failure to thrive, poor growth, weight loss, lethargy, diarrhea, vomiting 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.
Genetic testing of the IL2RG gene will reliably determine whether a dog is a genetic Carrier of X-linked severe combined immunodeficiency (corgi type). X-linked severe combined immunodeficiency (corgi type) is inherited in an X-Linked Recessive manner in dogs meaning that female dogs with one copy of the Mutation are carriers. Females must receive two copies of the mutated gene (one from each parent) to develop the disease while male dogs only require one copy of the mutated gene from the mother in order to develop disease. Therefore, male dogs more commonly present with symptoms of the disease. Each male pup that is born to a female dog known to be a carrier of severe combined immunodeficiency, X-linked (corgi type) has a 50% chance of inheriting the disease. Reliable genetic testing is important for determining breeding practices. Because female carriers generally do not have features of the disease, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers 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.
- Pullen RP, Somberg RL, Felsburg PJ, Henthorn PS. X-linked severe combined immunodeficiency in a family of cardigan Welsh corgis. J Am Anim Hosp Assoc. 1997 Nov-Dec;33(6):494-9. [PubMed: 9358416]
- Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthron PS. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13. [PubMed: 8571541]