X-linked severe combined immunodeficiency / X-SCID (IL2RG-related) - Welsh Corgi

What does this test analyse?

This DNA test analyses the IL2RG c.583_584insC variant, also describable as c.583dup, for X-linked severe combined immunodeficiency in Corgi lines. The condition is also known as X-SCID, XSCID, severe combined immunodeficiency and IL2RG-related immunodeficiency.

What does X-SCID mean?

IL2RG encodes the common gamma chain shared by several interleukin receptors. This signalling pathway is essential for normal immune-cell development and function. The insertion creates a frameshift and truncated protein, so affected puppies develop a severely failing immune system.

Affected puppies can show poor growth, diarrhoea or vomiting, absence of palpable lymph nodes and repeated infections of the airways, skin, eyes, ears or intestine from a young age. The condition is very severe and life-threatening, especially in male puppies carrying the variant allele.

Inheritance and result

This trait is inherited as X-linked recessive. A dog without the variant has N/N / N/Y. A female with N/insC is a carrier. A male with insC/Y is genetically affected; a female with two variant copies also falls in the affected genotype category.

Practical value of this test

This test is valuable for breeding selection because carrier females can look healthy, while male offspring that inherit the variant develop severe immunodeficiency. The result helps breeders avoid risk matings and screen relatives of affected puppies.

• Identifies carrier females in Cardigan Welsh Corgi and Pembroke Welsh Corgi lines.
• Helps prevent the birth of affected male puppies.
• Adds clear information for family screening after early infections, poor growth or puppy loss.
• Supports transparent breeding plans and communication with puppy buyers.
• Makes it possible to select clear males and clear females for safer matings.