OMIA group 899
Severe combined immunodeficiency disease, X-linked
The chain reaches the human disease T-B+ severe combined immunodeficiency due to gamma chain deficiency, which Mondo defines as: “Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.” It reaches 1 more human disease, listed below.
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.
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Animal disease
Reached
OMIA records it in 3 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.85.
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Drugs
Reached
8 ChEMBL drugs, 5 approved. None has been tested for this disease.
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.
72.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 25.9 of 35 |
| Drugs | A drug has reached phase 1/2 for this disease | 12.5 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 |
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | A drug has reached phase 1/2 for this disease | 12.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:000899-9615 | Yes |
| golden hamster Genetically engineered, not naturally occurring. Not counted in the score. | Mesocricetus auratus | OMIA:000899-10036 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:000899-9823 | 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 |
|---|---|---|---|
| dog | IL2RG interleukin 2 receptor, gamma NCBI Gene 403851 | IL2RG Ensembl | one to one |
| golden hamster | Il2rg interleukin 2 receptor, gamma NCBI Gene 101824015 | IL2RG Ensembl | one to one |
| pig | IL2RG interleukin 2 receptor, gamma NCBI Gene 397156 | IL2RG 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.
The two routes found some of the same diseases, but not all.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0010730 | combined immunodeficiency, X-linked | Both routes |
| MONDO:0010315 | T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. | OMIA's OMIM numbers |
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 |
|---|---|---|---|---|
| IL2RG | T-B+ severe combined immunodeficiency due to gamma chain deficiency | 0.85 | 628 | Genetic association 0.94 Genetic literature 0.84 Animal model 0.62 Literature 0.33 |
| IL2RG | combined immunodeficiency, X-linked | 0.74 | 31 | Genetic association 0.87 Genetic literature 0.73 Animal model 0.53 Literature 0.01 |
Drugs
Drugs act on IL2RG, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Aldesleukin | IL2RG | agonist | Approved | No |
| Basiliximab | IL2RG | inhibitor | Approved | No |
| Daclizumab | IL2RG | inhibitor | Approved | No |
| Denileukin Diftitox | IL2RG | binding agent | Approved | No |
| Nogapendekin Alfa Inbakicept | IL2RG | agonist | Approved | No |
| Simlukafusp Alfa | IL2RG | binding agent | Phase 3 | No |
| Pegenzileukin | IL2RG | agonist | Phase 2 | No |
| Recombinant Human Interleukin-15 | IL2RG | agonist | Phase 2 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.