severe combined immunodeficiency (SCID)
GPTKB entity
Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:abbreviation |
gptkb:SCID
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:bubble_boy_disease
|
| gptkbp:causedBy |
genetic mutations
IL2RG gene mutation JAK3 gene mutation RAG1 gene mutation RAG2 gene mutation adenosine deaminase deficiency |
| gptkbp:characterizedBy |
severe infections
defective B cells defective T cells |
| gptkbp:diagnosedBy |
genetic testing
newborn screening lymphocyte count |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
severe combined immunodeficiency (SCID)
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D012583
|
| gptkbp:notableCase |
gptkb:David_Vetter
|
| gptkbp:OMIM |
300400
|
| gptkbp:prevalence |
1 in 50,000 to 100,000 births
|
| gptkbp:prognosis |
fatal if untreated
improved with early treatment |
| gptkbp:riskFactor |
life-threatening infections
|
| gptkbp:symptom |
failure to thrive
recurrent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Rotarix
gptkb:RotaTeq |
| gptkbp:bfsLayer |
6
|