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Cardigan Welsh Corgi — Severe combined immunodeficiency disease, X-linked (hereditary; OMIA-verified breed predisposition)

companion_breed_health_cardigan_welsh_corgi_omia1587_dog

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--- license: permission_granted topic_id: companion_breed_health_cardigan_welsh_corgi_omia1587_dog category: companion-breed-health title: "Cardigan Welsh Corgi — Severe combined immunodeficiency disease, X-linked (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/cardigan_welsh_corgi_omia1587_1587.txt date_parsed: 2026-08-02 tokens_estimated: 770 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_cardigan_welsh_corgi_omia1587_dog/01_companion_breed_health_cardigan_welsh_corgi_omia1587_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: "Cardigan Welsh Corgi — Severe combined immunodeficiency disease, X-linked (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000899/9615/" 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

Cardigan Welsh Corgi — Severe combined immunodeficiency disease, X-linked (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: Cardigan Welsh Corgi (Dog)
  • Disorder:
  • Mode of inheritance: X-linked
  • Summary: X-linked severe combined immunodeficiency disease (XSCID) is an immune disorder of basset hounds and Cardigan Welsh corgis. Affected pups have peripheral lymphopenia, with low or absent IgG and IgA, but normal IgM concentrations. Clinical findings include the absence of palpable lymph nodes, a small thymic shadow on radiographs, and chronic recurrent infections. It is invariably lethal. The breed specific mutations in IL2RG lead to production of a truncated protein. Edited by Paula Henthorn, PhD
  • Clin feat: Affected pups are characterized by failure to thrive, absence of palpable peripheral lymph nodes, small thymic size, and T cells that are unresponsive to proliferative stimulation. Affected pups often succumb to chronic, recurrent, opportunistic infections in varied locations (ear, skin, intestine). Other signs include diarrhea, and intermittent vomiting. Vaccination of affected pups with modified live virus vaccines can induce viremia and clinical signs. Affected pups have peripheral lymphopenia with a normal percentage of B cells and a low to normal percentage of T cells. IgM concentrations are normal, but IgG and IgA concentrations are greatly reduced or absent (Pullen et al., 1997). Even with supportive treatment, affected pups usually die by 4 months of age.
  • Defect: yes
  • Pathology: IL2RG encodes the common gamma chain, which is a subunit of the receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. Functional receptors for these cytokines are necessary for leukocyte proliferation, differentiation, survival and function, and their absence causes a severe and ultimately lethal disease (Kennedy et al., 2011). T cells in affected animals do not proliferate in response to mitogens, such as phytohemagglutin (PHA), because they do not express a functional IL-2 receptor. B cells can produce IgM but cannot class switch to IgG (Felsburg et al, 1999). Primary and secondary lymphoid tissue is either reduced in size or totally absent. At necropsy, the thymus is small and dysplastic (Felsburg et al., 1999).
  • Prevalence: This disorder is rare.
  • Control: This is an X-linked trait causing severe disease in very young affected males. Thus, the disease reported in both breeds was likely recognized within a few generations of the occurrence of the initial causative mutation (Pullen et al., 1997). Consequently, the mutation was never widely disseminated in either breed, and breed wide testing is not indicated. However, new cases can occur in any breed due to novel mutations. Rapid referral to a specialist is recommended for suspected cases. Female relatives of affected males should be tested to identify carriers. Breeding of carrier females is not recommended. However, males that are free of the disease do not carry the mutation and can be bred.
  • Gen test: There is a PCR-based test available to detect the mutation in the basset hound and the Cardigan Welsh Corgi.

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 403851 (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 disorder), Henthorn et al. (1994) showed that the causative mutation in basset hounds is a four nucleotide deletion causing a frame shift and subsequent premature termination of the gene coding for the gamma chain of the IL-2 receptor. The causative mutation in the Cardigan Welsh corgi is a single nuc…

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.

  • 1993. Histologic Characterization of the Thymus in Canine X-Linked Severe Combined Immunodeficiency. Clinical Immunology and Immunopathology — PubMed:PMID8443985 — OMIA Phene_Article / Article
  • 1994. IL-2R gamma gene microdeletion demonstrates that canine X- linked severe combined immunodeficiency is a homologue of the human disease. Genomics — PubMed:PMID7829104 | DOI:10.1006/geno.1994.1460 — OMIA Phene_Article / Article
  • 1994. Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. Genomics — PubMed:PMID7829103 | DOI:10.1006/geno.1994.1459 — OMIA Phene_Article / Article
  • 1994. T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency. Journal of Immunology — OMIA Phene_Article / Article
  • 1995. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol — PubMed:PMID8571541 | DOI:10.1016/0165-2427(94)05400-m — OMIA Phene_Article / Article
  • 1996. Postnatal development of T cells in dogs with X-linked severe combined immunodeficiency. Journal of Immunology — OMIA Phene_Article / Article
  • 1997. X-linked severe combined immunodeficiency in a family of cardigan welsh corgis. Journal of the American Animal Hospital Association — PubMed:PMID9358416 — OMIA Phene_Article / Article
  • 1997. Full immunologic reconstitution following nonconditioned bone marrow transplantation for canine X-linked severe combined immunodeficiency. Blood — PubMed:PMID9376605 — OMIA Phene_Article / Article
  • 1998. Canine X-linked severe combined immunodeficiency. Immunologic Research — PubMed:PMID9479568 | DOI:10.1007/BF02786431 — OMIA Phene_Article / Article
  • 1999. Canine X-linked severe combined immunodeficiency. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article
  • 1999. Bone marrow transplantation for canine X-linked severe combined immunodeficiency. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article
  • 2000. B-cell function in canine X-linked severe combined immunodeficiency. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article
  • (10 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:300400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:308380 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:312863 (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."

Sources

Cardigan Welsh Corgi — Severe combined immunodeficiency disease, X-linked (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 8443985

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