57,48 47,50 hors TVA

H745

Dogs affected by X-Linked Severe Combined Immunodeficiency Disease (X-SCID) have a poorly functioning immune system.

10 working days

Excl €5,95 shipping and administration per order (incl. VAT)

Caractéristiques

Breeds

Gene

Chromosome

X

Mutation

c.583_584insC

Mode of Inheritance

X-Linked Recessive

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

XSCID; X-SCID

Informations générales

Dogs affected by X-Linked Severe Combined Immunodeficiency Disease (X-SCID) have a poorly functioning immune system. This variant of the disorder is found in the Cardigan Welsh Corgi. The disease is caused by a recessive X-linked mutation to the gene IL2RG. Because affected dogs are unable to produce a protein important for proper immune function, they are extremely susceptible to bacterial, viral and yeast infections. Even with treatment, affected pups usually die by 4 months of age.

A related variant is found in the Basset Hound.

Caractéristiques cliniques

Affected dogs often show symptoms around 6 to 8 weeks of age including failure to thrive, diarrhea, intermittent vomiting and absence of palpable lymph nodes. Affected dogs may also suffer from respiratory, skin, eye or ear infections. Vaccination of affected pups with modified live virus vaccines can cause viremia and clinical signs.

Additional Information

Références

Pubmed ID: 8571541

Year published: 1995

Omia ID: 899

Omia variant ID: 584

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