Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
rare disease |
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:Job's_syndrome
|
| gptkbp:characterizedBy |
gptkb:eczema
recurrent lung infections high serum IgE levels recurrent skin abscesses |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1966
Dr. Davis and colleagues |
| https://www.w3.org/2000/01/rdf-schema#label |
hyper IgE syndrome
|
| gptkbp:ICD-10_code |
D82.4
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:STAT3_gene
gptkb:DOCK8_gene TYK2 gene |
| gptkbp:OMIM |
147060
|
| gptkbp:prevalence |
very rare
|
| gptkbp:riskFactor |
family history of immunodeficiency
|
| gptkbp:symptom |
coarse facial features
skeletal abnormalities recurrent staphylococcal infections retained primary teeth sinopulmonary infections |
| gptkbp:treatment |
antibiotics
hematopoietic stem cell transplantation immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:IL4_gene
|
| gptkbp:bfsLayer |
7
|