Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
innate immunity B cell function T cell function |
| gptkbp:alsoKnownAs |
IKK-beta deficiency
|
| gptkbp:associatedWith |
recurrent infections
|
| gptkbp:cause |
immunodeficiency
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2003
|
| https://www.w3.org/2000/01/rdf-schema#label |
IKBKB deficiency
|
| gptkbp:impact |
gptkb:NF-kappaB_signaling_pathway
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IKBKB_gene
|
| gptkbp:OMIM |
615206
|
| gptkbp:treatment |
hematopoietic stem cell transplantation
|
| gptkbp:bfsParent |
gptkb:immunodeficiency_17
|
| gptkbp:bfsLayer |
8
|