immunodeficiency 17

GPTKB entity

Statements (12)
Predicate Object
gptkbp:instanceOf genetic disorder
immunodeficiency
gptkbp:affects immune system
gptkbp:alternativeName gptkb:IKBKB_deficiency
https://www.w3.org/2000/01/rdf-schema#label immunodeficiency 17
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:IKBKB_gene
gptkbp:OMIM 615572
gptkbp:symptom recurrent infections
impaired immune response
gptkbp:bfsParent gptkb:CD3G_gene
gptkbp:bfsLayer 7