Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:IMD19
|
| gptkbp:associatedWith |
B-cell deficiency
|
| gptkbp:characterizedBy |
recurrent infections
hypogammaglobulinemia |
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
immunodeficiency 19
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CD19_gene
|
| gptkbp:OMIM |
615840
|
| gptkbp:bfsParent |
gptkb:T-cell_surface_glycoprotein_CD3_delta_chain
gptkb:CTPS1_(human) |
| gptkbp:bfsLayer |
8
|