Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
gptkb:SCID
|
| gptkbp:affects |
infants
immune system |
| gptkbp:alsoKnownAs |
gptkb:Severe_Combined_Immunodeficiency
|
| gptkbp:causedBy |
genetic mutations
|
| gptkbp:characterizedBy |
severely impaired immune response
|
| gptkbp:diagnosedBy |
genetic testing
immune function tests |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
bubble boy disease
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:notableCase |
gptkb:David_Vetter
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
fatal if untreated
improved with early treatment |
| gptkbp:riskFactor |
family history of SCID
|
| gptkbp:symptom |
failure to thrive
frequent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
bone marrow transplant enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Severe_Combined_Immunodeficiency_(SCID)
gptkb:severe_combined_immunodeficiency_(SCID) gptkb:ADA-SCID gptkb:SCID |
| gptkbp:bfsLayer |
7
|