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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 |
|---|---|---|---|
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 10855 | HPSE | heparanase | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23274 | CLEC16A | C-type lectin domain containing 16A | |
| 23324 | MAN2B2 | mannosidase alpha class 2B member 2 | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 51478 | HSD17B7 | hydroxysteroid 17-beta dehydrogenase 7 | |
| 55907 | CMAS | cytidine monophosphate N-acetylneuraminic acid synthetase |
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 |
