Immunodeficiency with Elevated IgE
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
|
| gptkbp:alsoKnownAs |
gptkb:Hyper-IgE_syndrome
gptkb:Job_syndrome |
| gptkbp:characterizedBy |
gptkb:eczema
recurrent lung infections high serum IgE levels recurrent skin abscesses |
| gptkbp:complication |
gptkb:bronchiectasis
chronic lung disease |
| gptkbp:diagnosedBy |
genetic testing
serum IgE measurement |
| gptkbp:firstDescribed |
gptkb:David_A._Buckley
1966 |
| gptkbp:hasGeneticCause |
gptkb:STAT3_mutation
gptkb:DOCK8_mutation |
| https://www.w3.org/2000/01/rdf-schema#label |
Immunodeficiency with Elevated IgE
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
gptkb:D006967
|
| gptkbp:OMIM |
147060
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
coarse facial features
skeletal abnormalities pneumatoceles recurrent staphylococcal infections retained primary teeth |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy antibiotic prophylaxis |
| gptkbp:bfsParent |
gptkb:IEI
|
| gptkbp:bfsLayer |
6
|