Severe Combined Immunodeficiency, SCID

 

Gene: PRKDC

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, PRKDC gene; c.10828 G>T, c.(E3617 STOP)

Medical system: Immunologic

Breed: Jack Russell Terrier

Age of onset of symptoms: around 3 to 14 weeks

SCID (Severe Combined Immunodeficiency) is a genetic disorder that results in a severe reduction in white blood cell numbers and overall immunodeficiency.  Antibodies of type IgM cannot be formed.  The first clinical signs appear around the age of 3 to 14 weeks and include recurring infections caused by bacterial, fungal or viral agents. These infections can be acute or chronic and most commonly affect the ears, eyes, respiratory system and skin. The affected animal will show weight loss and stunted growth as well as atrophy of lymph nodes.  Diarrhea and vomiting are also clinical features.  Live modified vaccines given to affected animals can precipitate sudden death.  This disease is lethal, often before the age of 4 months, following the decline of maternal anitbodies provided by the colostrum.

 

References:

OMIA link: [0220-9615]

Meek K, Jutkowitz A, Allen L, et al. (2009) SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. J Immunol 183:2529-36.  [pubmed/19635917]

Perryman LE. (2004) Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol 41:95-100.  [pubmed/15017021]

Bell TG, Butler KL, Sill HB, et al. (2002) Autosomal recessive severe combined immunodeficiency of Jack Russell terriers. J Vet Diagn Invest. 14(3):194-204. [pubmed/12033674]

Ding Q, Bramble L, Yuzbasiyan-Gurkan V, Bell T, Meek K. (2002) DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia. Gene. 283(1-2):263-9. [pubmed/11867233]

Meek K, Kienker L, Dallas C, et al. (2001) SCID in Jack Russell terriers : A new animal model of DNA-PKcs deficiency.  J Immunology 167(4) :2142-2150.  [pubmed/11489998]