Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
immunodeficiency |
| gptkbp:alsoKnownAs |
gptkb:Hyper-IgE_syndrome
HIES |
| gptkbp:causedBy |
mutation in STAT3 gene
mutation in DOCK8 gene |
| gptkbp:characterizedBy |
gptkb:eczema
coarse facial features skeletal abnormalities recurrent lung infections recurrent skin abscesses retained primary teeth high levels of immunoglobulin E (IgE) |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
1966
|
| https://www.w3.org/2000/01/rdf-schema#label |
Job's syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D006948
|
| gptkbp:namedAfter |
the biblical figure Job
|
| gptkbp:OMIM |
147060
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
antibiotics
immunoglobulin therapy management of eczema |
| gptkbp:bfsParent |
gptkb:Hyper-IgE_syndrome
gptkb:hyper_IgE_syndrome gptkb:STAT3_mutation |
| gptkbp:bfsLayer |
8
|