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Severe Combined Immunodeficiency Disease, X-Linked (Corgi Type)

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Test Overview:

Severe Combined Immunodeficiency Disease is characterised by reduced lymphocyte counts with low (or no) concentrations of IgG and IgA but with normal levels of IgM. Characteristics of this disease include small thymus, chronic recurrent infections and absence of palpable lymph nodes. Affected dogs will often have diarrhoea, vomiting and may die by the age of 4 months.

Category:

Immunologic - Associated with the organs and cells of the immune system

Gene:

IL2RG

Variant Detected:

Chr. X: c.583_584insCp.(R195Pfs*5)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Severe Combined Immunodeficiency Disease.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/9358416/ Somberg, R.L., Pullen, R.P., Casal, M.L., Patterson, D.F., Felsburg, P.J., Henthorn, P.S. : A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol 47:203-13, 1995. Pubmed reference: 8571541

Associated Breed(s):

Cardigan Welsh Corgi, Pembroke Welsh Corgi,

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