autosomal dominant immunodeficiency 27A
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:alternativeName |
AD IMD27A
STAT1 gain-of-function immunodeficiency |
| gptkbp:causedBy |
STAT1 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant immunodeficiency 27A
|
| gptkbp:ICD-10_code |
D84.9
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
614162
|
| gptkbp:regulates |
gptkb:STAT1
|
| gptkbp:symptom |
gptkb:chronic_mucocutaneous_candidiasis
autoimmunity recurrent infections |
| gptkbp:treatment |
immunosuppressive therapy
antifungal therapy |
| gptkbp:bfsParent |
gptkb:JAK1
|
| gptkbp:bfsLayer |
8
|