Severe combined immunodeficiency
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:abbreviation |
gptkb:SCID
|
| gptkbp:affects |
immune system
both males and females |
| gptkbp:causedBy |
genetic mutations
X-linked recessive inheritance autosomal recessive inheritance |
| gptkbp:characterizedBy |
defective B cells
defective NK 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
|
| gptkbp:ICD-10_code |
D81.0
|
| gptkbp:inheritance |
genetic
|
| gptkbp:MeSH_ID |
D012583
|
| gptkbp:mostCommonForm |
gptkb:X-linked_SCID
|
| gptkbp:mostCommonMutation |
IL2RG gene mutation
|
| gptkbp:notableCase |
David Vetter (the 'bubble boy')
|
| gptkbp:OMIM |
300400
|
| gptkbp:onset |
infancy
|
| gptkbp:otherMutations |
JAK3 gene mutation
RAG1 gene mutation RAG2 gene mutation ADA gene mutation |
| gptkbp:prevalence |
rare
|
| gptkbp:prevention |
genetic counseling
|
| gptkbp:prognosis |
fatal if untreated
improved with early treatment |
| gptkbp:relatedTo |
gptkb:DiGeorge_syndrome
gptkb:Omenn_syndrome Wiskott-Aldrich syndrome |
| gptkbp:riskFactor |
increased susceptibility to infections
|
| gptkbp:symptom |
gptkb:pneumonia
failure to thrive oral thrush recurrent infections chronic diarrhea |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation immunoglobulin replacement therapy |
| gptkbp:vaccineContraindication |
live vaccines
|
| gptkbp:bfsParent |
gptkb:CD3E
gptkb:DCLRE1C |
| gptkbp:bfsLayer |
7
|