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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 |
|---|---|---|---|
| 23274 | CLEC16A | C-type lectin domain containing 16A | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29071 | C1GALT1C1 | C1GALT1 specific chaperone 1 | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 56624 | ASAH2 | N-acylsphingosine amidohydrolase 2 | |
| 56848 | SPHK2 | sphingosine kinase 2 | |
| 56913 | C1GALT1 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NZN1 | Interleukin-1 receptor accessory protein-like 1 | |
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 | |
| Q9UBM7 | 7-dehydrocholesterol reductase | |
| Q9Y251 | Heparanase | |
| Q9Y2S2 | Lambda-crystallin homolog |
