Activated PI3K Delta Syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
primary immunodeficiency disorder
|
| gptkbp:abbreviation |
gptkb:APDS
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
PASLI disease
|
| gptkbp:firstDescribed |
2013
|
| https://www.w3.org/2000/01/rdf-schema#label |
Activated PI3K Delta Syndrome
|
| gptkbp:ICD-10_code |
D81.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PIK3CD_gene
PIK3R1 gene |
| gptkbp:OMIM |
615513
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
autoimmunity
hepatosplenomegaly lymphadenopathy recurrent respiratory infections lymphoproliferation |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy antibiotic prophylaxis PI3Kδ inhibitors |
| gptkbp:bfsParent |
gptkb:APDS
|
| gptkbp:bfsLayer |
7
|