X-linked severe combined immunodeficiency in a family of Cardigan Welsh corgis.
Two, male, Cardigan Welsh corgi puppies, one of which was diagnosed with X-linked severe combined immunodeficiency (XSCID), are described in this report. The first puppy was euthanized before definitive immunological testing could be performed. When the second puppy was presented and the relationship between the two was discovered, immunological testing was pursued immediately due to this puppy's rapid deterioration. The immunological test results and genetic studies were compared to the XSCID basset hounds and found to be similar. By unveiling the mutation, the pedigree could be analyzed and the carrier females removed from the breeding population.
Pullen
R P
RP
Section of Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA.
Somberg
R L
RL
Felsburg
P J
PJ
Henthorn
P S
PS
D000818:Animals; D004283:Dog Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D004285:Dogs; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D008297:Male; D009154:Mutation; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics / Q000662:veterinary*; D014960:X Chromosome