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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). CARMIL2 encodes a protein that plays critical roles in T-cell activation and other aspects of immune function. Deleterious CARMIL2 variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism. This discovery highlights the potential utility of a natural canine model in identifying and studying primary immunodeficiencies in patients affected by PCP.<\/jats:p>","DOI":"10.3390\/jof10030198","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T03:03:20Z","timestamp":1709607800000},"page":"198","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia"],"prefix":"10.3390","volume":"10","author":[{"given":"Emily L.","family":"Coffey","sequence":"first","affiliation":[{"name":"Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6078-5730","authenticated-orcid":false,"given":"Liang","family":"Ma","sequence":"additional","affiliation":[{"name":"Critical Care Medicine Department, NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2990-2185","authenticated-orcid":false,"given":"Ousmane H.","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Critical Care Medicine Department, NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5191-9880","authenticated-orcid":false,"given":"Joseph A.","family":"Kovacs","sequence":"additional","affiliation":[{"name":"Critical Care Medicine Department, NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5472-5088","authenticated-orcid":false,"given":"Katie M.","family":"Minor","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antti","family":"Sukura","sequence":"additional","affiliation":[{"name":"Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6738-2125","authenticated-orcid":false,"given":"Patrizia","family":"Danesi","sequence":"additional","affiliation":[{"name":"Laboratory of Parasitology, Mycology and Medical Enthomology, Istituto Zooprofilattico Sperimentale delle Venezie, 35020 Legnaro, PD, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-2322","authenticated-orcid":false,"given":"Steven G.","family":"Friedenberg","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonah N.","family":"Cullen","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1527-7593","authenticated-orcid":false,"given":"Christiane","family":"Weissenbacher-Lang","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences and Pathobiology, Institute of Pathology, University of Veterinary Medicine Vienna, Veterin\u00e4rplatz 1, 1210 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie C.","family":"Nadeau","sequence":"additional","affiliation":[{"name":"Veterinary Specialty Services, Manchester, MO 63021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Veterinary Specialty Services, Manchester, MO 63021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin N.","family":"Granick","sequence":"additional","affiliation":[{"name":"Pacific Northwest Pet ER & Specialty Center, Vancouver, WA 98686, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie K.","family":"Branson","sequence":"additional","affiliation":[{"name":"Kirkwood Animal Hospital, Kirkwood, MO 63122, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle C.","family":"Branson","sequence":"additional","affiliation":[{"name":"St. Luke\u2019s Hospital, 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