X-chromosomal severe immunodeficiency (X-SCID)

LABOKLIN Service ID: 8063

The X-linked severe combined immunodeficiency (X-SCID) causes serious defects in cellular and humoral immunity. Affected dogs suffer from developmental disorder, increased responsiveness for viral and bacterial pathogens and degeneration of peripheral lymph nodes. The dogs die at the age of four month. The source of the disease founds on a gene mutation in the interleukin-2-receptor region. For Bassets a deletion of four bases could be found, while Welsh Corgis posses an addition of one base in the gene. These mutations avert the formation of a functional receptor which normally binds to interleukin-2 and thereby causes the cells to proliferate.

Method	sequencing
Breed list	Basset Hound, Cardigan Welsh Corgi, Pembroke Welsh Corgi, Welsh Corgi (Cardigan/Pembroke)
Heredity	X-chromosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab