Deutsch
Hrvatski
Русский
Português
Severe Combined Immunodeficiency Disease, X-linked Basset Hound type (XSCID)
| Acronym: | SCID, XSCID |
| Gene: | IL2RG |
| Mutation: | c.30_33delCCTC |
| Inheritance: | X-linked recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Severe combined immunodeficiency disease (SCID) represents a heterogeneous group of disorders that are characterized by a failure in humoral and cell-mediated immunity. The inheritance of SCID can be either autosomal or X-linked recessive. Clinically, XSCID is characterized by failure to thrive, increased susceptibility to bacterial and viral pathogens, and a lack of palpable peripheral lymph nodes. XSCID is invariably fatal in dogs by 4 months of age unless treated by bone marrow transplantation or provision of a germ-free environment.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (female) or hemizygous state (male) (i.e. only healthy allele on X chromosome). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has mutated allele in homozygous state (female) or hemizygous state (male) (i.e. only mutated allele on X chromosome). It is likely the animal will experience a genetic disorder due to this mutation.**It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Richard L. Somberg, R.P.P. (1995). A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Veterinary Immunology and Immunopathology 203–213.