X-linked Severe Combined Immunodeficiency Disease (XSCID)
Breed: Welsh Corgi Pembroke
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these 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 in this breed
General
Disease Name
X-linked Severe Combined Immunodeficiency Disease (XSCID)
OMIA
899
Gene Name
IL2RG
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.
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
OMIA Url
Inheritance
XR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
XSCID
Gene Name
IL2RG
Mutation
c.583_584insC
Mutation Comment
g.55483461_55483462insG
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.582_583insC
Nature of test
mutation test
FCI Number
39
GTP Breed
Welsh Corgi Pembroke
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
X-chromosomal severe combined immunodeficiency
Gene Name
IL2RG
Mutation
c.582_583insC
Nature of test
mutation test
FCI Number
39
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
X-chromosomal severe combined immunodeficiency
GTP Disease Synonym
Severe Combined Immune-Deficiency X-linked
Gene Name
IL2RG
Mutation
c.582_583insC
Nature of test
mutation test
FCI Number
39
GTP Breed
Pembroke Welsh Corgi
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
IL2RG
Mutation
c.582_583insC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Key Comment