X-linked severe combined immunodeficiency
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
males predominantly |
| gptkbp:alsoKnownAs |
gptkb:X-linked_SCID
|
| gptkbp:causedBy |
mutations in common gamma chain
|
| gptkbp:characterizedBy |
absence of NK cells
absence of T cells non-functional B cells |
| gptkbp:complication |
life-threatening infections
early death if untreated |
| gptkbp:diagnosedBy |
genetic testing
immunophenotyping |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked severe combined immunodeficiency
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IL2RG_gene
|
| gptkbp:OMIM |
300400
|
| gptkbp:prevalence |
1 in 50,000 to 100,000 live births
|
| gptkbp:symptom |
failure to thrive
recurrent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
hematopoietic stem cell transplantation immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:X-linked_SCID
|
| gptkbp:bfsLayer |
7
|