Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
gptkb:Severe_Combined_Immunodeficiency
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:bubble_boy_disease
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
genetic testing
newborn screening |
| gptkbp:firstDescribed |
1950s
|
| gptkbp:fullName |
gptkb:Severe_Combined_Immunodeficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCID
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:notableGroup |
gptkb:Adenosine_deaminase_deficiency_SCID
gptkb:Jak3_deficiency_SCID gptkb:X-linked_SCID |
| gptkbp:OMIM |
300400
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
fatal if untreated
good with early treatment |
| gptkbp:riskFactor |
life-threatening infections
|
| gptkbp:symptom |
failure to thrive
recurrent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
bone marrow transplant enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:immunodeficiency
|
| gptkbp:bfsLayer |
6
|