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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 |
|---|---|---|---|
| 2220 | FCN2 | ficolin 2 | |
| 2271 | FH | fumarate hydratase | |
| 2350 | FOLR2 | folate receptor beta | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2519 | FUCA2 | alpha-L-fucosidase 2 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2524 | FUT2 | fucosyltransferase 2 (H blood group) | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2571 | GAD1 | glutamate decarboxylase 1 | |
| 2572 | GAD2 | glutamate decarboxylase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N6Q3 | CD177 antigen | |
| Q8TB61 | Adenosine 3'-phospho 5'-phosphosulfate transporter 1 | |
| Q92835 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | |
| Q93063 | Exostosin-2 | |
| Q99519 | Sialidase-1 | |
| Q9BTY2 | Plasma alpha-L-fucosidase | |
| Q9BXN2 | C-type lectin domain family 7 member A | |
| Q9BZZ2 | Sialoadhesin | |
| Q9HCU0 | Endosialin | |
| Q9NR71 | Neutral ceramidase |
