X-linked immunodeficiency

GPTKB entity

Statements (13)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:affects immune system
gptkbp:caused_by mutation in the IL2 RG gene
gptkbp:diagnosis genetic testing
gptkbp:first_described_by in the 1980s
https://www.w3.org/2000/01/rdf-schema#label X-linked immunodeficiency
gptkbp:known_as gptkb:X-SCID
gptkbp:prevalence 1 in 100,000 male births
gptkbp:symptoms increased susceptibility to infections
gptkbp:transmission X-linked inheritance
gptkbp:treatment bone marrow transplant
gptkbp:bfsParent gptkb:NCF1
gptkbp:bfsLayer 8