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Severe Combined Immunodeficiency Disease (Wetterhoun Type)

Severe Combined Immunodeficiency Disease (SCID) (Wetterhoun Type) is a fatal inherited condition in Wetterhouns, characterized by the inability to develop a functional immune system, leading to severe infections and early death.

Affected Genes: RAG1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr18:31239054: C>A

Breed: Wetterhoun

General Information: Severe Combined Immunodeficiency Disease (SCID) in Wetterhouns is a grave genetic disorder caused by a deficiency in a vital immune system protein, resulting in compromised immune responses. Puppies with SCID typically exhibit signs of illness around 7 to 8 weeks of age, presenting with a range of symptoms including failure to thrive, poor growth, weight loss, lethargy, and gastrointestinal issues such as diarrhea and vomiting. Neurological symptoms such as ataxia and seizures, as well as blindness, may also occur. These puppies frequently suffer from persistent respiratory, skin, eye, and ear infections due to their inability to mount a normal immune defense. Without a functioning immune system, affected dogs are unable to cope with common pathogens and typically do not survive beyond four months of age.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the RAG1 gene is crucial in identifying carriers of Severe Combined Immunodeficiency Disease (SCID)(Wetterhoun Type), which is transmitted via an autosomal recessive pattern. This means that a puppy must inherit two copies of the mutated gene, one from each parent, to exhibit the disease. While carriers of one copy of the mutation remain healthy and symptom-free, breeding two carriers poses a high risk: each offspring has a 25% chance of inheriting the disease and a 50% likelihood of being a carrier. To prevent the birth of affected puppies and manage the genetic health of the breed, it is recommended not to breed carriers together. Genetic testing provides breeders with the tools to make informed decisions, aiming to eradicate this debilitating mutation from the Wetterhoun gene pool and ensure the health of future generations.

References:
Verfuurden B, Wempe F, Reinink P, van Kooten PJ, Martens E, Gerritsen R, Vos JH, Rutten VP, Leegwater PA. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun. 2011 12(4):310-313.