|
gptkbp:instanceOf
|
gptkb:genetic_disorder
|
|
gptkbp:abbreviation
|
gptkb:ADA-SCID
|
|
gptkbp:affects
|
immune system
|
|
gptkbp:category
|
gptkb:inborn_error_of_metabolism
gptkb:immunodeficiency
|
|
gptkbp:causedBy
|
mutations in the ADA gene
|
|
gptkbp:characterizedBy
|
gptkb:immunodeficiency
gptkb:lymphopenia
recurrent infections
|
|
gptkbp:diagnosedBy
|
genetic testing
immunological assays
|
|
gptkbp:firstDescribed
|
1972
|
|
gptkbp:fullName
|
gptkb:Adenosine_Deaminase_Severe_Combined_Immunodeficiency
|
|
gptkbp:ICD-10_code
|
D81.3
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:OMIM
|
102700
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:relatedTo
|
gptkb:bubble_boy_disease
|
|
gptkbp:riskFactor
|
life-threatening infections
|
|
gptkbp:symptom
|
gptkb:pneumonia
failure to thrive
oral thrush
chronic diarrhea
|
|
gptkbp:treatment
|
gptkb:gene_therapy
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation
|
|
gptkbp:bfsParent
|
gptkb:Severe_Combined_Immunodeficiency_(SCID)
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ADA-SCID
|