OMIA group 1574
Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive
The chain reaches the human disease severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, which Mondo defines as: “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.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
-
Animal disease
Reached
OMIA records it in 3 species entries marked as a defect.
-
Human disease
Reached
1 Mondo disease.
-
Human gene
Reached
2 human genes.
-
Target evidence
Reached
2 Open Targets associations, with a best score of 0.80.
-
Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
62.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 2 genetically engineered entries are not counted | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| chicken Genetically engineered, not naturally occurring. Not counted in the score. | Gallus gallus | OMIA:001574-9031 | Yes |
| dog | Canis lupus familiaris | OMIA:001574-9615 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:001574-9823 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| chicken | RAG1 recombination activating 1 NCBI Gene 423164 | RAG1 Ensembl | one to one |
| dog | RAG1 recombination activating gene 1 NCBI Gene 483420 | RAG1 Ensembl | one to one |
| pig | RAG1 recombination activating gene 1 NCBI Gene 397506 | RAG1 Ensembl | one to one |
| pig | RAG2 recombination activating gene 2 NCBI Gene 100151744 | RAG2 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011086 | 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. | Both routes |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| RAG1 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 0.80 | 973 | Genetic association 0.90 Genetic literature 0.78 Animal model 0.57 |
| RAG2 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 0.79 | 597 | Genetic association 0.87 Genetic literature 0.83 Animal model 0.63 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.