The detail information of Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2011
Species-specific name: -
Species-specific symbol: T-B-NK+ SCID
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB423 | Italian Wire-Haired Segugio | Males: 52 cm – 60 cm.Females: 50 cm – 58 cm. | Males: 20 kg – 28 kg. Females: 18 kg – 26 kg. | ITALY |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| RAG1 | recombination activating gene 1 | Canis lupus familiaris | Chr- : - - - | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2011 |
Verfuurden,B.,Wempe,F.,Reinink,P.,vanKooten,PJ.,Martens,E.,Gerritsen,R.,Vos,JH.,Rutten,VP.,Leegwater,PA.: :
Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384 . DOI: 10.1038/gene.2011.6 . |