57,48 47,50 hors TVA

H787

Trapped Neutrophil Syndrome (TNS) is a hereditary immune disease common to Border Collies.

10 working days

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Caractéristiques

Breeds

Gene

Chromosome

13

Mutation

c.2893_2896del

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

TNS

Informations générales

Trapped Neutrophil Syndrome (TNS) is a hereditary immune disease common to Border Collies. Affected dogs’ bone marrow is unable to properly release white blood cells into the bloodstream, causing various bodily complications as well as an extreme vulnerability to infections due to a poor immune system. TNS is therefore often fatal within the first year. It is caused by a recessive mutation to the gene VPS13B.

Caractéristiques cliniques

Affected puppies suffer from infections due to a compromised immune system. They are smaller and weaker than their littermates, and may develop an abnormally lengthened head and/or legs. Onset can be anywhere between six months and two years of age.

Additional Information

Références

Pubmed ID: 21605373

Year published: 2011

Omia ID: 1428

Omia variant ID: 478

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