Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
|
gptkbp:affects |
immune system
|
gptkbp:alsoKnownAs |
gptkb:PASLI
|
gptkbp:category |
immunodeficiency
|
gptkbp:firstDescribed |
2013
|
gptkbp:fullName |
gptkb:Activated_PI3K_Delta_Syndrome
|
gptkbp:geneticTestAvailable |
yes
|
https://www.w3.org/2000/01/rdf-schema#label |
APDS
|
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
|