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primary immunodeficiency disease
Summary
- Synonym
-
- hypoimmunity
- immune deficiency disorder
- immunodeficiency syndrome
- Definition
- An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
- Super Class
- immune system disease
External Links
- Disease Ontology
- DOID:612
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4938 | OAS1 | 2'-5'-oligoadenylate synthetase 1 | |
| 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 | |
| 5337 | PLD1 | phospholipase D1 | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z7D3 | V-set domain-containing T-cell activation inhibitor 1 | |
| Q8NFW8 | N-acylneuraminate cytidylyltransferase | |
| Q92185 | Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase | |
| Q9Y251 | Heparanase | |
| Q9Y2E5 | Epididymis-specific alpha-mannosidase | |
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
