Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency
|
| gptkbp:associatedWith |
recurrent infections
|
| gptkbp:characterizedBy |
absence of NK cells
absence of T cells presence of B cells |
| gptkbp:diagnosedBy |
genetic testing
flow cytometry |
| gptkbp:hasDeficiencyOf |
gptkb:NK_cells
gptkb:T_cells |
| gptkbp:hasNormal |
gptkb:B_cells
|
| https://www.w3.org/2000/01/rdf-schema#label |
T-B+NK- SCID
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:IL2RG_gene
gptkb:JAK3_gene gptkb:IL7R_gene |
| gptkbp:treatment |
gene therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:IL2RG
|
| gptkbp:bfsLayer |
7
|