Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

X-linked Severe Combined Immunodeficiency Disease (XSCID)

Breed: Bassett Hound

Generic Phene Data

General

Disease Name
X-linked Severe Combined Immunodeficiency Disease (XSCID)
OMIA
899
Gene Name
IL2RG
Mutation
c.582_583insC
Mutation 2
c.30_33del
OMIM
312863
OMIM 2
300400
Disease Code
XSCID
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
X-chromosomal severe combined immunodeficiency
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.
Published 2
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. Veterinary Immunology & Immunopathology 47:203-213, 1995.
Body/System/Process
Autoimmune
Inheritance
XR
Gene Name Text
interleukin 2 receptor, gamma

Breed Specific Data

VetGen LLC

Link to GTP
Gene Name
IL2RG
Mutation
c.30_33del

Wisdom Health (formerly Mars Veterinary)

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR

VHL Genetics

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR

Paw Print Genetics

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR

Genoscoper Laboratories Oy

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR

Embark

Link to GTP
GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
X-linked Severe Combined Immunodeficiency Disease (XSCID)
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR

CAG GmbH Center for Animal Genetics

Link to GTP
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
X-linked Severe Combined Immunodeficiency Disease (XSCID)
Gene Name
IL2RG
Mutation
c.30_33del
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 homol
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXXSCID). No breeding of carrier females (XXXSCID). Do not grow well, diarrhea and occasional vomiting, susceptible to infections.
Inheritance
XR
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.