Primäre Immundefizienz Typ 2 (PIP2)
Primary Immunodeficiency type 2
General description
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.
Breeds
Cavalier King Charles Spaniel
Order details
| Test number | 8937 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Gene | CARMIL2 |
| Mutation | G-A |
| Literature | OMIA:002835-9615 |
Detailed description
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.
