Primary immunodeficiency type 2 / PIPS2 (CARMIL2-related) - Cavalier King Charles Spaniel

What does this test examine?

This genetic test analyses the CARMIL2 c.871C>T variant in the Cavalier King Charles Spaniel. The disorder is known as primary immunodeficiency type 2, PIPS2, CARMIL2-related primary immunodeficiency and hereditary immune deficiency.

CARMIL2 is important for normal signalling in immune cells. The tested variant introduces an early stop codon, so dogs with two copies can develop insufficient immune function.

What does this disorder mean?

Affected dogs can be susceptible to severe or recurrent infections. Reported problems include pneumonia, Pneumocystis or Bordetella infections, persistent respiratory disease, skin problems, gastrointestinal signs and weak immune responses to common pathogens.

Practical value of this test

The test is useful for breeders managing this variant in their lines and for owners or veterinarians who want clearer genetic insight into inherited immune problems. Because carriers usually show no obvious signs, DNA testing provides information that appearance and general health cannot reliably reveal.

• Clear: the dog does not carry the tested CARMIL2 variant.
• Carrier: the dog carries one copy and can pass the variant on.
• Genetically affected: the dog carries two copies and develops CARMIL2-related PIPS2.

The result supports targeted breeding choices, transparent puppy information and better interpretation when young Cavaliers develop unusually frequent or severe infections.