Adenosine Deaminase Severe Combined Immunodeficiency
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder immunodeficiency |
| gptkbp:affects |
gptkb:NK_cells
gptkb:B_cells gptkb:T_cells immune system |
| gptkbp:alsoKnownAs |
gptkb:ADA-SCID
Adenosine Deaminase Deficiency |
| gptkbp:category |
SCID (Severe Combined Immunodeficiency)
|
| gptkbp:cause |
accumulation of deoxyadenosine
toxic metabolites in lymphocytes |
| gptkbp:characterizedBy |
gptkb:lymphopenia
recurrent infections severe immunodeficiency |
| gptkbp:complication |
early death if untreated
|
| gptkbp:deficiencyCauses |
adenosine deaminase enzyme
|
| gptkbp:diagnosedBy |
genetic testing
immunological assays |
| gptkbp:firstDescribed |
1972
|
| https://www.w3.org/2000/01/rdf-schema#label |
Adenosine Deaminase Severe Combined Immunodeficiency
|
| gptkbp:ICD-10_code |
D81.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ADA gene
|
| gptkbp:OMIM |
102700
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:pneumonia
failure to thrive chronic diarrhea |
| gptkbp:treatment |
gene therapy
bone marrow transplant enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:ADA-SCID
|
| gptkbp:bfsLayer |
7
|