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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 |
|---|---|---|---|
| 57016 | AKR1B10 | aldo-keto reductase family 1 member B10 | |
| 57511 | COG6 | component of oligomeric golgi complex 6 | |
| 79679 | VTCN1 | V-set domain containing T cell activation inhibitor 1 | |
| 79966 | SCD5 | stearoyl-CoA desaturase 5 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 283420 | CLEC9A | C-type lectin domain containing 9A | |
| 100507436 | MICA | MHC class I polypeptide-related sequence A |
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 |
