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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
severe combined immunodeficiency
Summary
- Synonym
-
- SCID
- combined T and B cell inborn immunodeficiency
- Definition
- A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
- Super Class
- combined immunodeficiency
External Links
- Disease Ontology
- DOID:627
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 915 | CD3D | CD3 delta subunit of T-cell receptor complex | |
| 3558 | IL2 | interleukin 2 | |
| 3561 | IL2RG | interleukin 2 receptor subunit gamma | |
| 3575 | IL7R | interleukin 7 receptor | |
| 3718 | JAK3 | Janus kinase 3 | |
| 5591 | PRKDC | protein kinase, DNA-activated, catalytic subunit | |
| 5788 | PTPRC | protein tyrosine phosphatase receptor type C | |
| 5993 | RFX5 | regulatory factor X5 | |
| 6892 | TAPBP | TAP binding protein | |
| 7535 | ZAP70 | zeta chain of T cell receptor associated protein kinase 70 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12500 | Cd3d | CD3 antigen, delta polypeptide | |
| 16183 | Il2 | interleukin 2 | |
| 16186 | Il2rg | interleukin 2 receptor, gamma chain | |
| 16197 | Il7r | interleukin 7 receptor | |
| 19264 | Ptprc | protein tyrosine phosphatase receptor type C | |
| 21356 | Tapbp | TAP binding protein |
