autoimmune lymphoproliferative syndrome (ALPS)
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
autoimmune disease lymphoproliferative disorder |
| gptkbp:abbreviation |
gptkb:ALPS
|
| gptkbp:affects |
immune system
lymphatic system |
| gptkbp:causedBy |
mutation in CASP10 gene
mutation in FAS gene mutation in FASLG gene |
| gptkbp:complication |
increased risk of lymphoma
|
| gptkbp:describedBy |
OMIM:601859
Orphanet:ORPHA:326 |
| gptkbp:firstDescribed |
1990s
|
| gptkbp:hasBiomarker |
elevated IL-10
elevated double-negative T cells elevated soluble FAS ligand elevated vitamin B12 |
| https://www.w3.org/2000/01/rdf-schema#label |
autoimmune lymphoproliferative syndrome (ALPS)
|
| gptkbp:ICD-10_code |
D47.Z2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
splenomegaly
lymphadenopathy hepatomegaly autoimmune cytopenias |
| gptkbp:treatment |
gptkb:sirolimus
gptkb:mycophenolate_mofetil immunosuppressive therapy corticosteroids |
| gptkbp:bfsParent |
gptkb:FAS_gene
gptkb:Fas_ligand_(FasL) |
| gptkbp:bfsLayer |
7
|