Primary Immunodeficiency Type 2 (PIPS2, CARMIL2-related) – CKCS
Code: H465
Short description
Primary Immunodeficiency Type 2, also known as PIPS2, is an immunodeficiency disorder in dogs often associated with the fungus Pneumocystis pneumonia (PCP).
General information
Primary Immunodeficiency Type 2, also known as PIPS2, is an immunodeficiency disorder in dogs often associated with the fungus Pneumocystis pneumonia (PCP). For this reason, it is also referred to as Primary Immunodeficiency with Pneumocystis Susceptibility.
The disorder is caused by an autosomal recessive mutation in the CARMIL2 gene. Affected dogs are unable to produce a protein critical for proper immune function, making them highly susceptible to respiratory infections. This variant of the disorder is specifically found in Cavalier King Charles Spaniels.
Specifications
| Breeds | |
|---|---|
| Gene | CARMIL2 |
| Chromosome | 5 |
| Mutation | c.871C>T |
| Organ | Immune System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
PIPS2 predisposes affected animals to recurrent respiratory infections. Infections, such as pneumonia, are commonly observed in affected dogs. Especially an infection with the fungus Pneumocystis is a strong indicator of underlying immunodeficiency, as this fungal infection does not occur in animals with a healthy immune system.
In PIPS2, diarrhea may result from autoimmune diseases such as inflammatory bowel disease. Furthermore, another commonly associated symptom is skin allergies.
References
Pubmed ID: 38535207
Year published: 2024
Omia ID: 2835
Omia variant ID:
Turnaround information
- 15 working days