Adenosine deaminase deficiency
GPTKB entity
Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
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
|
https://www.w3.org/2000/01/rdf-schema#label |
Adenosine deaminase deficiency
|
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 |
gene therapy
enzyme replacement therapy hematopoietic stem cell transplantation |
gptkbp:bfsParent |
gptkb:Gene_Therapy
gptkb:AdE |
gptkbp:bfsLayer |
7
|