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