Adenosine deaminase deficiency SCID

URI: https://gptkb.org/entity/Adenosine_deaminase_deficiency_SCID
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:immunodeficiency
gptkbp:affects immune system
gptkbp:alsoKnownAs gptkb:ADA-SCID
gptkb:Adenosine_deaminase_deficiency
ADA deficiency
gptkbp:characterizedBy gptkb:immunodeficiency
gptkb:lymphopenia
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
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 gptkb:gene_therapy
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:SCID
gptkbp:bfsLayer 9
https://www.w3.org/2000/01/rdf-schema#label Adenosine deaminase deficiency SCID