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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 |
|---|---|---|---|
| 3820 | KLRB1 | killer cell lectin like receptor B1 | |
| 3824 | KLRD1 | killer cell lectin like receptor D1 | |
| 3956 | LGALS1 | galectin 1 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 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 |
Related Glycoprotein
