Emily L Coffey, Liang Ma, Ousmane H Cissé, Joseph A Kovacs, Katie M Minor, Antti Sukura, Patrizia Danesi, Steven G Friedenberg, Jonah N Cullen, Christiane Weissenbacher-Lang, Julie C Nadeau, Amber M Graham, Martin N Granick, Natalie K Branson, Kyle C Branson, Barbara Blasi, Casandra M Jacobs, Eva Furrow
Pet dogs are a valuable natural animal model for studying relationships between primary immunodeficiencies and susceptibility to Pneumocystis and other opportunistic respiratory pathogens. Certain breeds, such as the Cavalier King Charles Spaniel, are over-represented for Pneumocystis pneumonia (PCP), suggesting the presence of a primary immunodeficiency in the breed. Here, we report the discovery of a CARMIL2 nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP (n = 2) or refractory Bordetella pneumonia (n = 1)...
March 5, 2024: Journal of Fungi (Basel, Switzerland)