autoimmune lymphoproliferative syndrome type IIB
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:abbreviation |
ALPS IIB
|
| gptkbp:affects |
immune system
|
| gptkbp:causedBy |
mutation in CASP10 gene
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:524
|
| gptkbp:hasParentDisease |
gptkb:autoimmune_lymphoproliferative_syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
autoimmune lymphoproliferative syndrome type IIB
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
603909
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
splenomegaly
lymphadenopathy autoimmune cytopenias |
| gptkbp:treatment |
gptkb:splenectomy
immunosuppressive therapy corticosteroids |
| gptkbp:bfsParent |
gptkb:CASP8
|
| gptkbp:bfsLayer |
8
|