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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 |
|---|---|---|---|
| 57124 | CD248 | CD248 molecule | |
| 57126 | CD177 | CD177 molecule | |
| 64581 | CLEC7A | C-type lectin domain containing 7A | |
| 79679 | VTCN1 | V-set domain containing T cell activation inhibitor 1 | |
| 79694 | MANEA | mannosidase endo-alpha | |
| 83666 | PARP9 | poly(ADP-ribose) polymerase family member 9 | |
| 120227 | CYP2R1 | cytochrome P450 family 2 subfamily R member 1 | |
| 126129 | CPT1C | carnitine palmitoyltransferase 1C | |
| 151056 | PLB1 | phospholipase B1 | |
| 347734 | SLC35B2 | solute carrier family 35 member B2 |
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 |
