Human disease
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Mondo defines it 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.”
2 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 1574 | Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive | Both routes | 3 | Target evidence |
62.0
|
| 2763 | Severe combined immunodeficiency disease, IL2RG and RAG1-related | OMIA's OMIM numbers | 1 | Drug |
9.1
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| RAG1 | 0.80 | 973 |
| RAG2 | 0.79 | 597 |
| IL2RG | 0.05 | 1 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.