{"topic_id":"companion_species_health_severe_combined_immunodeficiency_disease_scid_horse","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_severe_combined_immunodeficiency_disease_scid_horse\ncategory: companion-species-health\ntitle: \"Horse (Equus caballus) — Severe Combined Immunodeficiency Disease (SCID) (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/horse_severe_combined_immunodeficiency_disease_scid_447.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 281\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_severe_combined_immunodeficiency_disease_scid_horse/01_companion_species_health_severe_combined_immunodeficiency_disease_scid_horse.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: \"Horse (Equus caballus) — Severe Combined Immunodeficiency Disease (SCID) (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000220/9796/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Horse (Equus caballus) — Severe Combined Immunodeficiency Disease (SCID) (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Horse (Equus caballus)`\n- `Disorder: Severe Combined Immunodeficiency Disease (SCID)`\n- `Clin feat: Affected foals are clinically normal at birth but beginning at about 10 days of age they develop a range of clinical signs, particularly bronchopneumonia and diarrhea with which adenoviruses are peculiarly associated (Studdert, 1978). {with thanks to Meredith O’Connell, Tanya German, Isabella Pisani and Karalie Andrews, working under the guidance of Professor Ernie Bailey; 25 Feb 2019} The \"combined\" nature of this disorder was highlighted by McGuire and Poppie (1973): “The defect in the B-lymphocyte system was shown by hypogammaglobulinemia, lymphopenia and absence of germinal centers. The almost total absence of thymic tissue in one foal and the lack of thymic dependent lymphocytes in the spleens of both foals demonstrate a T-cell defect.” {with thanks to Professor E. Bailey; 20 March 2019}`\n- `Prevalence: AbouEl Ela et al. (2018) reported a zero frequency of the c.9478_9482del variant in a sample of 103 Egyptian horses, including 33 randomly-selected Arab horses.`\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: DNA-PK (Entrez Gene ID 40417433) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: The molecular basis of SCID in horses was discovered by Shin et al. (1997), who used the comparative candidate-gene approach (based on work with SCID mice; see Mapping section). By sequencing the equine homologue of DNAPK, Shin et al. (1997) showed that SCID in horses is due to a 5bp deletion giving rise to a frameshift in that gene, resulting in the lack of full-length kinase, and absence of kina…\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- 1978. Mixed lymphocyte culture responses in combined immunodeficiency of horses. Transplantation — PubMed:PMID146281 — OMIA Phene_Article / Article\n- 1980. Combined immunodeficiency of Arabian horses: Confirmation of autosomal recessive mode of inheritance. Journal of the American Veterinary Medical Association — PubMed:PMID7429919 — OMIA Phene_Article / Article\n- 1980. Immunologic aspects of combined immunodeficiency disease in Arabian foals. Am J Vet Res — PubMed:PMID7004276 — OMIA Phene_Article / Article\n- 1974. Combined (B- and T-lymphocyte) immunodeficiency: a fatal genetic disease in Arabian foals. Journal of the American Veterinary Medical Association — PubMed:PMID4358832 — OMIA Phene_Article / Article\n- 1977. Combined immunodeficiency in foals of Arabian breeding: evaluation of mode of inheritance and estimation of prevalence of affected foals and carrier mares and stallions. Journal of the American Veterinary Medical Association — PubMed:PMID299745 — OMIA Phene_Article / Article\n- 1978. Legal aspects of diagnosing combined immunodeficiency (CID) in Arabian foals. American Association of Equine Practitioners Newsletter — OMIA Phene_Article / Article\n- 1978. Primary, severe, combined immunodeficiency disease of Arabian foals. Aust Vet J — PubMed:PMID217327 | DOI:10.1111/j.1751-0813.1978.tb05562.x — OMIA Phene_Article / Article\n- 1975. Surface receptors on neutrophils and monocytes from immunodeficient and normal horses. Immunology — PubMed:PMID1126740 — OMIA Phene_Article / Article\n- 1989. Bone Marrow Transplantation in Horses with Hereditary Severe  Combined Immunodeficiency — OMIA Phene_Article / Article\n- 1990. Concurrent Cryptosporidium and Coronavirus Infections in an Arabian Foal with Combined Immunodeficiency Syndrome. Veterinary Record — PubMed:PMID2156372 — OMIA Phene_Article / Article\n- 1989. Serum Uric Acid Concentrations in Horses Heterozygous for  Combined Immunodeficiency. American Journal of Veterinary Research — PubMed:PMID2610446 — OMIA Phene_Article / Article\n- 1991. Persistent Cryptosporidiosis in Horses with Severe Combined  Immunodeficiency. Infection and Immunity — PubMed:PMID1894380 — OMIA Phene_Article / Article\n- (54 additional references in OMIA)\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:600899 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:615966 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Horse (Equus caballus) — Severe Combined Immunodeficiency Disease (SCID) (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Horse (Equus caballus) — Severe Combined Immunodeficiency Disease (SCID) (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/146281/","retrieved":"","ref":"PMID 146281","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":1103,"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."}