Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
rare disease |
| gptkbp:alsoKnownAs |
hyper-IgE syndrome
Buckley syndrome |
| gptkbp:causedBy |
mutation in STAT3 gene
|
| gptkbp:characterizedBy |
skeletal abnormalities
recurrent lung infections recurrent skin abscesses retained primary teeth eczema-like skin rashes high levels of immunoglobulin E (IgE) |
| gptkbp:diagnosedBy |
clinical features and genetic testing
|
| gptkbp:firstDescribed |
1966
Dr. Davis and Dr. Wedgwood |
| https://www.w3.org/2000/01/rdf-schema#label |
Job syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
biblical figure Job
|
| gptkbp:OMIM |
147060
|
| gptkbp:prevalence |
very rare
|
| gptkbp:treatment |
antibiotics
immunoglobulin therapy |
| gptkbp:bfsParent |
gptkb:Immunodeficiency_with_Elevated_IgE
|
| gptkbp:bfsLayer |
7
|