Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:canBe |
autosomal dominant
autosomal recessive |
| gptkbp:cause |
gptkb:chronic_mucocutaneous_candidiasis
increased susceptibility to infections recurrent bacterial infections increased susceptibility to fungal infections increased susceptibility to viral infections recurrent viral infections increased susceptibility to mycobacterial infections |
| gptkbp:causedBy |
mutations in STAT1 gene
|
| gptkbp:diagnosedBy |
genetic testing
immunological assays |
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
STAT1 deficiency
|
| gptkbp:impact |
interferon signaling
immune response to pathogens |
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:relatedTo |
STAT1 protein
|
| gptkbp:symptom |
fever
skin infections failure to thrive hepatosplenomegaly lymphadenopathy recurrent pneumonia |
| gptkbp:treatment |
hematopoietic stem cell transplantation
antimicrobial prophylaxis |
| gptkbp:bfsParent |
gptkb:STAT1
|
| gptkbp:bfsLayer |
7
|