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autoimmune lymphoproliferative syndrome
Summary
- Synonym
-
- ALPS
- Canale-Smith syndrome
- Definition
- A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
- Super Class
- hypersensitivity reaction type IV disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5336 | PLCG2 | phospholipase C gamma 2 | |
| 5337 | PLD1 | phospholipase D1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5716 | PSMD10 | proteasome 26S subunit, non-ATPase 10 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q15485 | Ficolin-2 | |
| Q16394 | Exostosin-1 | |
| Q16706 | Alpha-mannosidase 2 | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q2KHT3 | Protein CLEC16A | |
| Q5SRI9 | Glycoprotein endo-alpha-1,2-mannosidase | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q7Z7D3 | V-set domain-containing T-cell activation inhibitor 1 | |
| Q86W56 | Poly(ADP-ribose) glycohydrolase |
