Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:APDS
Activated PI3K-delta Syndrome |
| gptkbp:firstDescribed |
2013
|
| gptkbp:fullName |
PI3K delta-activating syndrome
|
| gptkbp:hasOrphanetID |
ORPHA:404447
|
| https://www.w3.org/2000/01/rdf-schema#label |
PASLI
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PIK3R1
gptkb:PIK3CD |
| gptkbp:OMIM |
615513
|
| gptkbp:symptom |
autoimmunity
hepatosplenomegaly lymphadenopathy recurrent respiratory infections lymphoproliferation |
| gptkbp:treatment |
antibiotics
immunoglobulin replacement therapy PI3Kδ inhibitors |
| gptkbp:bfsParent |
gptkb:APDS
|
| gptkbp:bfsLayer |
7
|