Adenosine deaminase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:cause |
gptkb:severe_combined_immunodeficiency_(SCID)
accumulation of deoxyadenosine toxic metabolites in lymphocytes |
| gptkbp:enzymeDeficiency |
gptkb:adenosine_deaminase
|
| gptkbp:firstDescribed |
1972
|
| gptkbp:ICD-10_code |
D81.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ADA gene
|
| gptkbp:OMIM |
102700
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:lymphopenia
failure to thrive recurrent infections |
| gptkbp:treatment |
gptkb:gene_therapy
gptkb:enzyme_replacement_therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Gene_Therapy
gptkb:AdE |
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Adenosine deaminase deficiency
|