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autoimmune lymphoproliferative syndrome type 2B
Summary
- Synonym
-
- ALPS with recurrent viral infections
- ALPS2B
- CEDS
- Caspase 8 deficiency
- Caspase 8 deficiency syndrome
- Caspase eight deficiency state
- autoimmune lymphoproliferative syndrome type IIB
- autoimmune lymphoproliferative syndrome with recurrent viral infections
- Definition
- An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
- Super Class
- autoimmune lymphoproliferative syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110116
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6382 | SDC1 | syndecan 1 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6900 | CNTN2 | contactin 2 | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 56624 | ASAH2 | N-acylsphingosine amidohydrolase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 | |
| Q12918 | Killer cell lectin-like receptor subfamily B member 1 | |
| Q13241 | Natural killer cells antigen CD94 | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q8TB61 | Adenosine 3'-phospho 5'-phosphosulfate transporter 1 | |
| Q9NR71 | Neutral ceramidase |
