Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:characterizedBy |
gptkb:lymphopenia
failure to thrive recurrent infections T-B+NK- immunophenotype |
| gptkbp:diagnosedBy |
genetic testing
immunophenotyping |
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
Jak3 deficiency SCID
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:JAK3_gene
|
| gptkbp:OMIM |
600802
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:X-linked_SCID
|
| gptkbp:symptom |
gptkb:pneumonia
opportunistic infections oral thrush chronic diarrhea |
| gptkbp:treatment |
hematopoietic stem cell transplantation
|
| gptkbp:bfsParent |
gptkb:SCID
|
| gptkbp:bfsLayer |
7
|