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Severe Combined Immunodeficiency Disease, X-Linked (Basset Hound Type)

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Test Overview:

X-Linked Severe Combined Immunodeficiency Disease (Basset Hound Type) is an inherited disease affecting basset hounds. Dogs affected with this disease 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 will often present with symptoms of disease including failure to thrive, poor growth, weight loss, lethargy, diarrhoea, vomiting and lack of palpable lymph nodes at around 6 to 8 weeks of age. Affected dogs may also present with active respiratory, skin, eye or ear infections. Affected dogs die within 4 months of age.

Category:

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

Gene:

IL2RG

Variant Detected:

chrX:55484657-55484660: 4 bp deletion (del CCTC)

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 of the IL2RG gene in basset hounds will reliably determine if a dog is a genetic carrier of X-linked severe combined immunodeficiency (basset hound type).

Research Citation(s):

Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine x-linked severe combined immunodeficiency is a homologue of the human disease. Genomics. 1994 Sep 1;23(1):69-74. [PubMed: 7829104]

Associated Breed(s):

Basset Hound,

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