Adenosine Deaminase Severe Combined Immunodeficiency

URI: https://gptkb.org/entity/Adenosine_Deaminase_Severe_Combined_Immunodeficiency
GPTKB entity
Statements (34)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:disease
gptkb: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
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 gptkb:gene_therapy
gptkb:enzyme_replacement_therapy
bone marrow transplant
gptkbp:bfsParent gptkb:ADA-SCID
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label Adenosine Deaminase Severe Combined Immunodeficiency