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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 |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 684 | BST2 | bone marrow stromal cell antigen 2 | |
| 811 | CALR | calreticulin | |
| 929 | CD14 | CD14 molecule | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) |
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 |
