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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 |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 933 | CD22 | CD22 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1056 | CEL | carboxyl ester lipase | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2271 | FH | fumarate hydratase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3554 | IL1R1 | interleukin 1 receptor type 1 |
Related Glycoprotein
