Adenosine deaminase deficiency SCID
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:ADA-SCID
gptkb:Adenosine_deaminase_deficiency ADA deficiency |
| gptkbp:characterizedBy |
gptkb:lymphopenia
immunodeficiency failure to thrive recurrent infections |
| gptkbp:complication |
early death if untreated
|
| gptkbp:deficiencyCauses |
adenosine deaminase enzyme
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1972
|
| gptkbp:frequency |
1 in 200,000 to 1,000,000 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Adenosine deaminase deficiency SCID
|
| gptkbp:ICD-10_code |
D81.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ADA gene
|
| gptkbp:OMIM |
102700
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
consanguinity
|
| gptkbp:symptom |
gptkb:pneumonia
oral thrush chronic diarrhea skin rashes |
| gptkbp:treatment |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:SCID
|
| gptkbp:bfsLayer |
7
|