Reverse query / human → dog
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.
A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.
| Canine model pathway | Evidence | Ortholog | Human anchor | Canine variant · assembly |
|---|---|---|---|---|
| RAG1 → RAG1 OMIA model-of | OMIA-anchored | one_to_one | — | gene-level (no single variant) |
Established genes without a canine model yet
Of the 2 genes GenCC calls an established (Definitive / Strong / Moderate) cause of severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, these 1 do not have a canine natural model in our substrate yet. Not "no dog carries this", a stated gap in what we hold, the honest frontier of the reverse query.
Gene-disease validity from GenCC (thegencc.org, CC0), the established tail across ClinGen, OMIM, Orphanet, and others. Each gene links to its Sniff lookup, where the human ortholog and any canine evidence we hold are shown, gene-level (INV-57).