X-chromosomal severe immuno defiziency

Von Willebrand disease (vWD) is a bleeding disorder caused by a quantitative or qualitative... more
Disease
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.
Breed
Basset Hound, Cardigan Welsh Corgi, Pembroke Welsh Corgi, Welsh Corgi
Heredity
X-chromosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
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