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X-linked Severe Combined Immunodeficiency Disease (XSCID)

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
X-linked Severe Combined Immunodeficiency Disease (XSCID)
Mutation
c.582_583insC
Mutation 2
c.30_33del
Test Type
Genetic Disease/Disorder
Details
X-linked severe combined immunodeficiency disease (XSCID) is a devastating immune disorder. Signs include: pups failure to thrive, chronic, recurrent, opportunistic infections, diarrhea and vomiting. Age of onset from birth. Even with treatment, affected pups usually die by 4 months of age.
Details 2
X-linked severe combined immunodeficiency disease (XSCID) is an immune disorder of basset hounds and Cardigan Welsh corgis. Affected pups have peripheral lymphopenia, with low or absent IgG and IgA, but normal IgM concentrations. Clinical findings include the absence of palpable lymph nodes, a small thymic shadow on radiographs, and chronic recurrent infections. It is invariably lethal. The breed specific mutations in IL2RG lead to production of a truncated protein.Affected pups are characterized by failure to thrive, absence of palpable peripheral lymph nodes, small thymic size, and T cells that are unresponsive to proliferative stimulation. Affected pups often succumb to chronic, recurrent, opportunistic infections in varied locations (ear, skin, intestine). Other signs include diarrhea, and intermittent vomiting. Vaccination of affected pups with modified live virus vaccines can induce viremia and clinical signs. Affected pups have peripheral lymphopenia with a normal percentage of B cells and a low to normal percentage of T cells. IgM concentrations are normal, but IgG and IgA concentrations are greatly reduced or absent (Pullen et al., 1997). Even with supportive treatment, affected pups usually die by 4 months of age. (From OMIA)
Published
Henthorn, P.S., Somberg, R.L., Fimiani, V.M., Puck, J.M., Patterson, D.F., Felsburg, P.J.: IL-2R gamma gene microdeletion demonstrates that canine X- linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23:69-74, 1994. Pubmed reference: 7829104. DOI: 10.1006/geno.1994.1460.
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