What is the human equivalent of Autosomal Recessive Severe Combined Immunodeficiency (ARSCID)?

OMIA links Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) to its human counterpart in OMIM (OMIM 615966), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Autosomal Recessive Severe Combined Immunodeficiency (ARSCID)

Q: How well studied is Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) in dogs?

OMIA curates 5 peer-reviewed references for Autosomal Recessive Severe Combined Immunodeficiency (ARSCID). The full, linked citation list is on this page.

Autosomal Recessive Severe Combined Immunodeficiency (ARSCID). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,663 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier: OMIA:000220-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human severe combined immunodeficiency due to DNA-PKcs deficiency

Dogs with this condition carry a change in PRKDC. In people, changes in the same gene cause severe combined immunodeficiency due to DNA-PKcs deficiency. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

In humans it is also called: IMD26, SCID due to DNA-PKcs deficiency.

MONDO:0014423 OMIM 615966

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

See: 'OMIA:001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris' for a autosomal severe combined immunodeficiency due genetic variants in the RAG1 gene.

Molecular genetics

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Ding et al. (2002) identied a causal mutation in the canine DNA-PKcs gene as "a point mutation [which] results in a stop codon at nucleotide 10,828 and premature termination at a position 517 amino acids before the normal C terminus resulting in a functionally null allele". The gene is now called PRKDC in dogs and DNAPK in horses (in which the same disorder is due to mutations in the homologous gene).

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 615966 Gene · OMIM 600899

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000220-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. · J Immunol · 2009 · PMID 19635917
Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. · Vet Pathol · 2004 · PMID 15017021
Autosomal recessive severe combined immunodeficiency of Jack Russell Terriers · Journal of Veterinary Diagnostic Investigation · 2002 · PMID 12033674
DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia · Gene · 2002 · PMID 11867233
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. · J Immunol · 2001 · PMID 11489998

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Your breed

See what Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) looks like in your dog's breed.

Variant frequency by breed

Observed only in small-sample breeds

Maximum variant frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The variant frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:000220-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:000220-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated July 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000220-9615 · Donner et al. 2023