Disease overview

Severe combined immunodeficiency disease is an immune condition in which production of white blood cells that are crucial for immune response are absent. This disease affects both B-lymphocytes, which are responsible for production of antibodies, as well as T-lymphocytes, which are used in immune response and signaling.

Gene name

IL2RG

Inheritance

X-Linked recessive

Signs and symptoms

Affected dogs will be highly susceptible to infection, including bacterial, viral, and parasitic infections. Other signs may include lethargy, vomiting, diarrhea, and failure to thrive. Dogs with this condition may have a shorter lifespan.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory tests will be needed to identify and determine cause(s) 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

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Citations

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. doi: 10.1006/geno.1994.1460. PMID: 7829104.

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn 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. doi: 10.1016/0165-2427(94)05400-m. PMID: 8571541.

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. doi: 10.5326/15473317-33-6-494. PMID: 9358416.

Disclaimer

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