Immunodeficiency 19

GPTKB entity

Statements (14)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects immune system
gptkbp:alsoKnownAs gptkb:IMD19
gptkbp:associatedWith defective B cell function
defective T cell function
gptkbp:characterizedBy recurrent infections
impaired immune response
gptkbp:firstDescribed 2015
https://www.w3.org/2000/01/rdf-schema#label Immunodeficiency 19
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith CD70 gene
gptkbp:OMIM 616949
gptkbp:bfsParent gptkb:CD3D
gptkbp:bfsLayer 7