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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 |
|---|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6382 | SDC1 | syndecan 1 | |
| 6480 | ST6GAL1 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | |
| 6489 | ST8SIA1 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7099 | TLR4 | toll like receptor 4 | |
| 7374 | UNG | uracil DNA glycosylase | |
| 8547 | FCN3 | ficolin 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P09382 | Galectin-1 | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P10253 | Lysosomal alpha-glucosidase | |
| P11226 | Mannose-binding protein C | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P15289 | Arylsulfatase A | |
| P15907 | Beta-galactoside alpha-2,6-sialyltransferase 1 |
