Primary Immunodeficiency with Pneumocystis Susceptibility, Type 2 (PIPS2) is an autosomal recessive disorder of defective immune function that is associated with pneumonia due to deleterious variant of CARMIL2 gene. In addition to respiratory infections, the affected dogs also suffer from early-onset gastrointestinal diseases, chronic diarrhoea, allergic skin diseases, mucocutaneous lesions, abscesses, autoimmune disorders and gastrointestinal parasitism.
Inheritance: autosomal recessive - read more
Mutation: CARMIL2 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.