Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:X-linked_SCID
|
| gptkbp:characterizedBy |
severe immunodeficiency
absence of NK cells absence of T cells non-functional B cells |
| gptkbp:defectiveProtein |
gptkb:common_gamma_chain_(γc)
|
| gptkbp:diagnosedBy |
genetic testing
immunophenotyping |
| gptkbp:firstDescribed |
1972
|
| gptkbp:frequency |
1 in 50,000 to 100,000 live births
|
| gptkbp:fullName |
gptkb:X-linked_severe_combined_immunodeficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-SCID
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
Xq13.1
|
| gptkbp:mostCommonFormOf |
immunodeficiency
|
| gptkbp:mutationAssociatedWith |
gptkb:IL2RG_gene
|
| gptkbp:OMIM |
300400
|
| gptkbp:otherTreatment |
gene therapy
enzyme replacement therapy |
| gptkbp:primaryTreatment |
hematopoietic stem cell transplantation
|
| gptkbp:symptom |
failure to thrive
recurrent infections chronic diarrhea |
| gptkbp:bfsParent |
gptkb:X-linked_SCID
|
| gptkbp:bfsLayer |
7
|