CARMIL2-related immunodeficiency(PIPS2)
Also known as: CARMIL2 deficiency · Canine CARMIL2 immunodeficiency · Immundefekt durch CARMIL2-Mangel · Primary immunodeficiency CARMIL2-related · Primary Immunodeficiency with Pneumocystis Susceptibility, Type 2
Overview
What it is
This is an inherited disorder of the immune system caused by a genetic mutation in the CARMIL2 gene, which impairs the function of T-cells (a type of white blood cell essential for fighting infections). Without properly functioning T-cells, the dog's body cannot effectively defend itself against common environmental bacteria, viruses, and fungi. This leaves the animal highly susceptible to persistent and recurrent infections.
How it presents
Affected dogs typically show symptoms in puppyhood, including slow-healing skin infections, chronic diarrhea, respiratory difficulties, and a general failure to thrive or grow at a normal rate.
Treatment
There is no cure for this condition, meaning affected dogs require lifelong supportive care, including frequent courses of antibiotics and specialized veterinary management. Management is highly demanding, with estimated lifetime treatment costs ranging from 2,000 to 12,000 EUR.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is CARMIL2-related immunodeficiency?
This is an inherited disorder of the immune system caused by a genetic mutation in the CARMIL2 gene, which impairs the function of T-cells (a type of white blood cell essential for fighting infections). Without properly functioning T-cells, the dog's body cannot effectively defend itself against common environmental bacteria, viruses, and fungi. This leaves the animal highly susceptible to persistent and recurrent infections.
How is CARMIL2-related immunodeficiency tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.