Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:PASLI
|
| gptkbp:category |
gptkb:immunodeficiency
|
| gptkbp:firstDescribed |
2013
|
| gptkbp:fullName |
gptkb:Activated_PI3K_Delta_Syndrome
|
| gptkbp:geneticTestAvailable |
yes
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PIK3R1
gptkb:PIK3CD |
| gptkbp:OMIM |
615513
616005 |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
autoimmunity
hepatosplenomegaly lymphadenopathy recurrent respiratory infections |
| gptkbp:treatment |
gptkb:rapamycin
immunoglobulin replacement therapy PI3Kδ inhibitors |
| gptkbp:bfsParent |
gptkb:APFSDS
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
APDS
|