Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
DOCK8 deficiency
autosomal recessive hyper-IgE syndrome |
| gptkbp:cause |
fungal infections
immunodeficiency recurrent infections eosinophilia bacterial infections increased risk of malignancy elevated IgE levels atopy cutaneous viral infections severe viral infections |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2009
|
| https://www.w3.org/2000/01/rdf-schema#label |
DOCK8 mutation
|
| gptkbp:impact |
B cell function
T cell function NK cell function dendritic cell migration |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
243700
|
| gptkbp:regulates |
DOCK8
|
| gptkbp:treatment |
hematopoietic stem cell transplantation
|
| gptkbp:bfsParent |
gptkb:Immunodeficiency_with_Elevated_IgE
|
| gptkbp:bfsLayer |
7
|