Academic Journal
A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
| العنوان: | A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia |
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| المؤلفون: | Coffey, Emily L. (University of Minnesota), Furrow, Eva (University of Minnesota), Cullen, Jonah N. (University of Minnesota), Friedenberg, Steven G. (University of Minnesota), Danesi, Patrizia (Istituto Zooprofilattico Sperimentale delle Venezie), Sukura, Antti (University of Helsinki), Minor, Katie M. (University of Minnesota), Kovacs, Joseph A. (National Institutes of Health), Ma, Liang (National Institutes of Health), Cissé, Ousmane H. (National Institutes of Health), Jacobs, Casandra M. (Desert Veterinary Medical Specialists), Blasi, Barbara (University of Veterinary Medicine Vienna), Branson, Kyle C. (Kirkwood Animal Hospital), Branson, Natalie K. (Kirkwood Animal Hospital), Granick, Martin N. (Pacific Northwest Pet ER & Specialty Center), Graham, Amber M. (Veterinary Specialty Services), Nadeau, Julie C. (Veterinary Specialty Services), Weissenbacher-Lang, Christiane (University of Veterinary Medicine Vienna) |
| المصدر: | Journal of Fungi 10(3) (2024) |
| بيانات النشر: | MDPI |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | Masticatory Muscle Myositis, Jirovecii, Infection, Rltpr, Cd28, Dogs |
| الوصف: | 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). 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | isPartOf:https://phaidra.vetmeduni.ac.at/o:605[Open Access Publications]; https://phaidra.vetmeduni.ac.at/o:2967 |
| DOI: | 10.3390/jof10030198 |
| الاتاحة: | https://doi.org/10.3390/jof10030198 https://phaidra.vetmeduni.ac.at/o:2967 |
| Rights: | CC BY 4.0 International ; http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.C03B09CE |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/jof10030198 |
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