X-Linked Severe Combined Immunodeficiency Disease (Corgi Type)

General Information: X-linked Severe Combined Immunodeficiency (XSCID) in Corgis typically manifests early, around 6 to 8 weeks of age, with affected puppies displaying severe immune dysfunction. Symptoms include failure to thrive, poor growth, significant weight loss, lethargy, frequent diarrhea, vomiting, and an absence of detectable lymph nodes. These puppies are highly susceptible to recurrent or chronic infections, including those affecting the respiratory system, skin, eyes, and ears. The profound immunodeficiency generally results in the premature death of affected puppies by the age of 4 months, often due to the severity and persistence of infections.

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: The genetic basis of X-linked Severe Combined Immunodeficiency (XSCID) in Corgis is linked to mutations in the IL2RG gene, which plays a critical role in immune system function. The disorder follows an X-linked recessive inheritance pattern. Male puppies require only one copy of the mutated gene from their mother to be affected, making the condition more common and severe in males. Female carriers have one mutated gene but typically do not show any symptoms; they have a 50% chance of transmitting the defective gene to their male offspring, who will be affected. Genetic testing for the IL2RG gene mutation is crucial for breeders to identify carriers and affected individuals accurately, allowing for informed breeding decisions. To prevent the continuation of this disease in future generations, it is recommended not to breed carriers. Testing and strategic breeding can significantly reduce the occurrence of XSCID in Corgis, enhancing the health and welfare of the breed. Non-carrier dogs do not pose any risk of transmitting this disorder to their offspring.