Severe Combined Immunodeficiency (SCID)
GPTKB entity
Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:bubble_boy_disease
|
| gptkbp:cannotReceive |
live vaccines
|
| gptkbp:causedBy |
genetic mutations
X-linked recessive inheritance autosomal recessive inheritance |
| gptkbp:characterizedBy |
defective B cells
defective NK cells defective T cells |
| gptkbp:complication |
failure to thrive
opportunistic infections life-threatening infections |
| gptkbp:diagnosedBy |
genetic testing
newborn screening lymphocyte subset analysis |
| 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:mostCommonGeneInvolved |
gptkb:IL2RG
|
| gptkbp:mostCommonType |
gptkb:X-linked_SCID
|
| gptkbp:notableCase |
gptkb:David_Vetter
|
| gptkbp:OMIM |
300400
|
| gptkbp:otherGenesInvolved |
gptkb:ADA
gptkb:DCLRE1C gptkb:JAK3 gptkb:RAG1 gptkb:RAG2 |
| gptkbp:prevalence |
1 in 50,000 to 100,000 births
|
| gptkbp:prognosis |
fatal if untreated
good with early treatment |
| gptkbp:riskFactor |
family history
|
| gptkbp:subspecies |
gptkb:Reticular_dysgenesis
gptkb:ADA-SCID gptkb:Omenn_syndrome gptkb:X-linked_SCID |
| gptkbp:symptom |
gptkb:pneumonia
failure to thrive oral thrush chronic diarrhea severe recurrent infections |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:Arabian
gptkb:Everything,_Everything |
| gptkbp:bfsLayer |
6
|