X-Linked Severe Combined Immunodeficiency Disease (XSCID) – Cardigan Welsh Corgi
Kodas: H745
Short description
Dogs affected by X-Linked Severe Combined Immunodeficiency Disease (X-SCID) have a poorly functioning immune system.
General information
Dogs affected by X-Linked Severe Combined Immunodeficiency Disease (X-SCID) have a poorly functioning immune system. This variant of the disorder is found in the Cardigan Welsh Corgi. The disease is caused by a recessive X-linked mutation to the gene IL2RG. Because affected dogs are unable to produce a protein important for proper immune function, they are extremely susceptible to bacterial, viral and yeast infections. Even with treatment, affected pups usually die by 4 months of age.
A related variant is found in the Basset Hound.
Specifications
| Breeds | |
|---|---|
| Gene | IL2RG |
| Chromosome | X |
| Mutation | c.583_584insC |
| Organ | Immune System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | XSCID; X-SCID |
Clinical features
Affected dogs often show symptoms around 6 to 8 weeks of age including failure to thrive, diarrhea, intermittent vomiting and absence of palpable lymph nodes. Affected dogs may also suffer from respiratory, skin, eye or ear infections. Vaccination of affected pups with modified live virus vaccines can cause viremia and clinical signs.
References
Pubmed ID: 8571541
Year published: 1995
Omia ID: 899
Omia variant ID:
Turnaround information
- 10 working days