--- license: permission_granted topic_id: companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog category: companion-breed-health title: "Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/cavalier_king_charles_spaniel_omia5896_5896.txt date_parsed: 2026-08-02 tokens_estimated: 212 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog/01_companion_breed_health_cavalier_king_charles_spaniel_omia5896_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002835/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)
Source: 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.
Claims
Breed: Cavalier King Charles Spaniel (Dog)Disorder: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.Defect: yes
Associated gene(s)
Derived 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.
- Gene: Entrez Gene ID 398298878 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
Evidence (references)
Derived 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.
- 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
Comparative medicine (human OMIM)
Derived 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.
- OMIM:610859 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:618131 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."