Primary immunodeficiency type 2 (PIPS2)

LABOKLIN Service ID: 8937

In the breed Cavalier King Charles Spaniel, a variant in the CARMIL2 gene was identified to cause Primary Immunodeficiency with increased susceptibility for respiratory pathogens. Affected dogs were infected with the pathogens Pneumocystis or Bordetella bronchiseptica and showed symptoms of refractory pneumonia. Gastrointestinal parasitism and chronic diarrhea, as well as skin disease and abscess formation were reported in the medical history of the affected dogs.

Method	sequencing
Breed list	Cavalier King Charles Spaniel
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample