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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 |
|---|---|---|---|
| 4241 | MELTF | melanotransferrin | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4860 | PNP | purine nucleoside phosphorylase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5552 | SRGN | serglycin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q9Y251 | Heparanase |
