Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:abbreviation |
AR-SCID
|
| gptkbp:affects |
immune system
|
| gptkbp:cause |
immunodeficiency
|
| gptkbp:characterizedBy |
increased susceptibility to infections
defective B cell function defective T cell development |
| gptkbp:diagnosedBy |
genetic testing
immunological assays |
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive SCID
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:JAK3_gene
gptkb:RAG1_gene gptkb:RAG2_gene ADA gene DCLRE1C gene |
| gptkbp:OMIM |
601457
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
failure to thrive
oral thrush recurrent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:JAK3
|
| gptkbp:bfsLayer |
7
|