{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Coffey EL"],"funding":["NCATS NIH HHS","NIH Special Emphasis Research Career Award","NIH Office of the Director Special Emphasis Research Career Award","NIH HHS","the Intramural Research Program of the National Institutes of Health (NIH) Clinical Center, NIH, Bethesda, Maryland","Division of Comparative Medicine, Office of Research Infrastructure Programs","NIH National Center for Advancing Translational Sciences"],"pagination":["198"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10970956"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(3)"],"pubmed_abstract":["Pet dogs are a valuable natural animal model for studying relationships between primary immunodeficiencies and susceptibility to <i>Pneumocystis</i> and other opportunistic respiratory pathogens. Certain breeds, such as the Cavalier King Charles Spaniel, are over-represented for <i>Pneumocystis</i> pneumonia (PCP), suggesting the presence of a primary immunodeficiency in the breed. Here, we report the discovery of a <i>CARMIL2</i> nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP (n = 2) or refractory <i>Bordetella</i> pneumonia (n = 1). <i>CARMIL2</i> encodes a protein that plays critical roles in T-cell activation and other aspects of immune function. Deleterious <i>CARMIL2</i> variants have recently been reported in human patients with PCP and other recurrent "],"journal":["Journal of fungi (Basel, Switzerland)"],"pubmed_title":["A Novel <i>CARMIL2</i> Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with <i>Pneumocystis</i> and <i>Bordetella</i> Pneumonia."],"pmcid":["PMC10970956"],"funding_grant_id":["UL1 TR002494","1 K01 OD027058","KL2 TR002492","K01 OD027058","K01 OD019912","K01OD027058","UL1TR002494","K01OD019912"],"pubmed_authors":["Granick MN","Minor KM","Ma L","Kovacs JA","Cisse OH","Cullen JN","Sukura A","Friedenberg SG","Weissenbacher-Lang C","Nadeau JC","Graham AM","Jacobs CM","Furrow E","Branson KC","Coffey EL","Danesi P","Branson NK","Blasi B"],"additional_accession":[]},"is_claimable":false,"name":"A Novel <i>CARMIL2</i> Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with <i>Pneumocystis</i> and <i>Bordetella</i> Pneumonia.","description":"Pet dogs are a valuable natural animal model for studying relationships between primary immunodeficiencies and susceptibility to <i>Pneumocystis</i> and other opportunistic respiratory pathogens. Certain breeds, such as the Cavalier King Charles Spaniel, are over-represented for <i>Pneumocystis</i> pneumonia (PCP), suggesting the presence of a primary immunodeficiency in the breed. Here, we report the discovery of a <i>CARMIL2</i> nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP (n = 2) or refractory <i>Bordetella</i> pneumonia (n = 1). <i>CARMIL2</i> encodes a protein that plays critical roles in T-cell activation and other aspects of immune function. Deleterious <i>CARMIL2</i> variants have recently been reported in human patients with PCP and other recurrent ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2026-07-09T10:48:08.549Z","creation":"2025-05-31T23:11:56.305Z"},"accession":"S-EPMC10970956","cross_references":{"pubmed":["38535207"],"doi":["10.3390/jof10030198"]}}