Autosomal Recessive Severe Combined Immunodeficiency (ARSCID)
Autosomal Recessive Severe Combined Immunodeficiency (ARSCID). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured allele frequencies drawn from 242,663 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment. The allele frequencies below count tested gene copies, not dogs, and describe how common the variant is, not disease incidence.
- OMIA identifier
- OMIA:000220-9615
- InheritanceInheritance patternWhat it isHow the condition is passed down: recessive (two copies needed), dominant (one copy), or more complex.For your dogRecessive means a single-copy carrier is usually healthy but can still pass it on.PreciselyThe documented mode of Mendelian transmission (autosomal recessive or dominant, X-linked, etc.), as listed for the variant in the Donner et al. 2023 carrier-screening catalogue.Donner et al. 2023 · documented
- Autosomal recessive
- Source dataset
- Sniff Atlas v1.0.2 / DOI
A model of human severe combined immunodeficiency due to DNA-PKcs deficiency
In dogs this condition is linked to the PRKDC gene. In people, changes in the same gene cause severe combined immunodeficiency due to DNA-PKcs deficiency. This canine condition is studied as a natural model of severe combined immunodeficiency due to DNA-PKcs deficiency in people; it is not the same as that human diagnosis. Studying dogs can move medicine forward for everyone; the canine disease remains the subject.
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.
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.
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 2026-08-27.
Summary
Molecular genetics
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.
Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000220-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).
OMIA curates the disease definition, the clinical description and the reference list. The cross-species disease identity is Monarch's. Sniff renders these and adds the breed-level frequencies, the plain-language summary, and a stated reason wherever a number is missing.
Published references
The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.
- 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.
Set each parent's status for Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) and see the odds for their puppies. Single recessive variant, exact Mendelian math.
Enter both parents' test results to see the odds for their puppies. Without a test, no one can tell how many copies a dog has.
These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
See what Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) looks like in your dog's breed.
Observed only in small-sample breeds
Maximum allele frequencyAllele frequencyWhat it isOf the gene copies tested in a breed, the share that carry the variant. Every dog carries two copies, so this is not the share of dogs.For your dogA dog with one copy of a recessive variant is usually healthy. It takes two copies to be at risk, and this figure does not say how many dogs carry one.PreciselyThe proportion of sampled alleles that are the variant allele, within a tested cohort. Not a carrier (genotype) frequency and not disease incidence.Sniff Atlas (Donner 2023) · measured per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervalsWilson 95% confidence intervalWhat it isThe range the true frequency is probably in. A wide range means we are less sure, usually because few dogs were tested.For your dogTrust tight ranges; treat wide ones as rough estimates.PreciselyA binomial-proportion confidence interval (Wilson score, 95%) that stays reliable at small sample sizes.Sniff Atlas methodology · statistical. 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
This record carries the breed-level allele 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 v1.0.2. 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 allele frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.
Citations
If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level allele frequencies) and the upstream sources:
- Sniff Atlas v1.0.2 for the per-breed allele frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.2. 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 allele-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.
Related
- Sniff Atlas v1.0.2, 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.