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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 |
|---|---|---|
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P17931 | Galectin-3 | |
| P18827 | Syndecan-1 | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P21589 | 5'-nucleotidase | |
| P21964 | Catechol O-methyltransferase | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P27797 | Calreticulin |
