Irish Setter — Canine leukocyte adhesion deficiency (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_irish_setter_canine_leukocyte_adhesion_deficiency_dog category: companion-breed-health title: "Irish Setter — Canine leukocyte adhesion deficiency (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/irish_setter_canine_leukocyte_adhesion_deficiency_1163.txt date_parsed: 2026-08-02 tokens_estimated: 788 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_irish_setter_canine_leukocyte_adhesion_deficiency_dog/01_companion_breed_health_irish_setter_canine_leukocyte_adhesion_deficiency_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: "Irish Setter — Canine leukocyte adhesion deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000595/9615/" 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

Irish Setter — Canine leukocyte adhesion deficiency (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: Irish Setter (Dog)
• Disorder: Canine leukocyte adhesion deficiency
• Mode of inheritance: Autosomal recessive
• Summary: In canine leukocyte adhesion deficiency (CLAD) of the Irish Setter and the Irish Red and White Setter, leucocytes fail to express CD11/CD18 cell surface integrins due to CD18 deficiency. As these cell surface receptors are necessary for interaction with other cells and the extracellular matrix, affected leucocytes are unable to migrate to sites of infection, participate in phagocytosis, or mount a respiratory burst, which results in recurrent, life-threating infections. Clinical signs include severe, recurrent bacterial skin infections, neonatal omphalophlebitis impaired wound healing, wounds that fail to exhibit purulent exudate, fever, gingivitis, lameness, and enlarged lymph nodes. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
• Clin feat: Onset of signs is often less than 12 weeks of age, with average age of presentation to the veterinarian at 13.5 weeks. Signs include recurrent infections, neonatal omphalophlebitis, fever, anorexia, lameness, impaired wound healing, severe skin infections, gingivitis, salivation, thickened mandible, enlarged metaphyses of the distal radius, ulna, tibia, and fibula, lameness, enlarged lymph nodes, and low body weight (Creevy et al., 2003a).. Characteristically, wounds fail to exhibit purulent exudate (Kijas et al., 1999) in the face of severe peripheral leukocytosis with a left shift and active granulocytosis in the bone marrow. Untreated dogs often die by 6 months of age. Gene therapy has been successful in reversing clinical signs (Creevy et al., 2003b).
• Defect: yes
• Pathology: While affected dogs mount significant circulating leukocytosis, the leukocytes cannot function normally (Jobling et al., 2003, Trowald-Wigh et al., 2000). Affected animals have decreased levels of leucocyte beta-2 integrins (specifically CD11b/CD18), which are cell surface receptors necessary for interactions with other cells and extracellular matrix. These leukocytes are unable to adhere to cells, migrate through the vasculature to sites of inflammation, participate in phagocytosis of complement-opsonized bacteria, or generate a respiratory burst.
• Prevalence: Prevalence of the mutant allele is estimated to be approximately 5% in the US Irish Setter population, and 7.6% in the Australian Irish Setter population (Kijas et al., 1999, Jobling et al., 2003).
• Control: There is a PCR-based test available to identify affected, carrier, and noncarrier dogs. With both Irish Setters and Irish Red and White Setters, carrier to carrier matings are discouraged. As Irish Setters have a large gene pool, so it is recommended to only breed animals that do not carry the mutation. As Irish Red and White Setters have a smaller gene pool, if carriers are bred, they should only be bred to noncarriers, and the offspring should be tested for the mutation.
• Gen test: There is a PCR-based test available to identify affected, carrier, and noncarrier dogs.

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 403770 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human and bovine disorder), Kijas et al. (1999) showed that the causative mutation is a missense mutation (Cys36Ser) in the ITGB2 gene, which encodes the integrin beta 2 subunit (CD18). Zimmerman et al. (2013) reported the same mutation in a mixed-breed dog.

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.

• 1992. Leucocyte adhesion protein deficiency in Irish setter dogs. Vet Immunol Immunopathol — PubMed:PMID1352926 | DOI:10.1016/0165-2427(92)90050-z — OMIA Phene_Article / Article
• 1993. Leucocyte adhesion deficiency in cattle and dogs - A genetic defect of the immune system. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article
• 1993. Canine neutrophil adhesion proteins and Fc-receptors in healthy dogs and dogs with adhesion protein deficiency, as studied by flow cytometry. Vet Immunol Immunopathol — PubMed:PMID8291207 | DOI:10.1016/0165-2427(93)90089-m — OMIA Phene_Article / Article
• 1999. A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics — PubMed:PMID10512685 | DOI:10.1006/geno.1999.5948 — OMIA Phene_Article / Article
• 2000. Inborn deficit of adhesion receptors: a new type of disease in cattle, dogs and humans [Review] [Polish]. Medycyna Weterynaryjna — OMIA Phene_Article / Article
• 2000. Clinical, radiological and pathological features of 12 Irish setters with canine leucocyte adhesion deficiency. Journal of Small Animal Practice — PubMed:PMID10907223 — OMIA Phene_Article / Article
• 2000. Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing. Animal Genetics — PubMed:PMID11105214 — OMIA Phene_Article / Article
• 2002. Canine leucocyte adhesion deficiency in Irish red and white setters. Journal of Small Animal Practice — PubMed:PMID11873952 — OMIA Phene_Article / Article
• 2002. Canine leukocyte adhesion deficiency: Presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters. Journal of Veterinary Internal Medicine — PubMed:PMID12322699 — OMIA Phene_Article / Article
• 2003. Canine leukocyte adhesion deficiency colony for investigation of novel hematopoietic therapies. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article
• 2005. Nonmyeloablative hematopoietic stem cell transplantation corrects the disease phenotype in the canine model of leukocyte adhesion deficiency. Exp Hematol — PubMed:PMID15911095 | DOI:10.1016/j.exphem.2005.03.010 — OMIA Phene_Article / Article
• 2008. Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors. Nat Med — PubMed:PMID18157138 | DOI:10.1038/nm1695 — OMIA Phene_Article / Article
• (16 additional references in OMIA)

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:116920 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:600065 (type: gene) — 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."