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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 56259 | CTNNBL1 | catenin beta like 1 | |
| 57169 | ZNFX1 | zinc finger NFX1-type containing 1 | |
| 64170 | CARD9 | caspase recruitment domain family member 9 | |
| 84061 | MAGT1 | magnesium transporter 1 | |
| 84888 | SPPL2A | signal peptide peptidase like 2A | |
| 90268 | OTULIN | OTU deubiquitinase with linear linkage specificity | |
| 96459 | FNIP1 | folliculin interacting protein 1 | |
| 219972 | MPEG1 | macrophage expressed 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 21899 | Tlr6 | toll-like receptor 6 | |
| 21942 | Tnfrsf9 | tumor necrosis factor receptor superfamily, member 9 | |
| 21968 | Tom1 | target of myb1 trafficking protein | |
| 22019 | Tpp2 | tripeptidyl peptidase II | |
| 23853 | Def6 | differentially expressed in FDCP 6 | |
| 24088 | Tlr2 | toll-like receptor 2 | |
| 66552 | Sppl2a | signal peptide peptidase like 2A | |
| 67075 | Magt1 | magnesium transporter 1 | |
| 142980 | Tlr3 | toll-like receptor 3 | |
| 170744 | Tlr8 | toll-like receptor 8 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24699 | Ptprc | protein tyrosine phosphatase, receptor type, C | |
| 24930 | Cd8a | CD8 subunit alpha | |
| 29260 | Tlr4 | toll-like receptor 4 | |
| 29723 | Slc19a1 | solute carrier family 19 member 1 | |
| 116562 | Il2 | interleukin 2 | |
| 116967 | Magt1 | magnesium transporter 1 | |
| 192281 | Oas1a | 2'-5' oligoadenylate synthetase 1A |
