{"topic_id":"companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog\ncategory: companion-breed-health\ntitle: \"Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/cavalier_king_charles_spaniel_omia5896_5896.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 212\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog/01_companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002835/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)\n\nSource: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Breed: Cavalier King Charles Spaniel (Dog)`\n- `Disorder: `\n- `Summary: Coffey et al. (2024) report the discovery of a emCARMIL2/em nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [emPneumocystis/em pneumonia] (n = 2) or refractorynbsp;emBordetella/em pneumonia (n = 1). ...nbsp;Deleterious emCARMIL2/em 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.`\n- `Defect: yes`\n## Associated gene(s)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- Gene: Entrez Gene ID 398298878 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- 2024. A novel CARMIL2 immunodeficiency identified in a subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella pneumonia. J Fungi (Basel) — PubMed:PMID38535207 | DOI:10.3390/jof10030198 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- OMIM:610859 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:618131 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  note: \"Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose.\"\n","sources":["companion-breed-health — Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/38535207/","retrieved":"","ref":"PMID 38535207","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":581,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}