The detail information of Severe combined immunodeficiency disease, autosomal
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: 2002

Species-specific name: Combined immunodeficiency disease

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
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.
2009 Meek,K.,Jutkowitz,A.,Allen,L.,Glover,J.,Convery,E.,Massa,A.,Mullaney,T.,Stanley,B.,Rosenstein,D.,Bailey,SM.,Johnson,C.,Georges,G.: :
SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. J Immunol 183:2529-36, 2009.
Pubmed reference: 19635917 . DOI: 10.4049/jimmunol.0801406 .
2002 Bell,T.G.,Butler,K.L.,Sill,H.B.,Stickle,J.E.,Ramos-Vara,J.A.,Dark,M.J.: :
Autosomal recessive severe combined immunodeficiency of Jack Russell Terriers Journal of Veterinary Diagnostic Investigation 14:194-204, 2002.
Pubmed reference: 12033674 .
2002 Ding,Q.,Bramble,L.,Yuzbasiyan-Gurkan,V.,Bell,T.,Meek,K.: :
DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002.
Pubmed reference: 11867233 .
2001 Meek,K.,Kienker,L.,Dallas,C.,Wang,W.,Dark,MJ.,Venta,PJ.,Huie,ML.,Hirschhorn,R.,Bell,T.: :
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. J Immunol 167:2142-50, 2001.
Pubmed reference: 11489998 .