Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
primary immunodeficiency disorder
|
| gptkbp:alsoKnownAs |
gptkb:Job's_syndrome
|
| gptkbp:associatedWith |
candidiasis
skeletal abnormalities hyperextensible joints facial dysmorphism recurrent otitis media recurrent staphylococcal infections retained primary teeth |
| gptkbp:causedBy |
mutations in DOCK8 gene
mutations in STAT3 gene |
| gptkbp:characterizedBy |
gptkb:eczema
recurrent lung infections recurrent skin abscesses elevated serum IgE levels |
| gptkbp:complication |
gptkb:bronchiectasis
pneumatoceles |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
Dr. Davis and Dr. Hill in 1966
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hyper-IgE syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D006965
|
| gptkbp:OMIM |
147060
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
pruritus
sinopulmonary infections |
| gptkbp:treatment |
immunoglobulin replacement therapy
antibiotic prophylaxis |
| gptkbp:bfsParent |
gptkb:Immunodeficiency_with_Elevated_IgE
gptkb:STAT3 |
| gptkbp:bfsLayer |
7
|