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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 12/06/2006
Symbol ADA
Location 20q12
Name severe, combined (complete ADA deficiency)
Other name(s) SCID due to ADA deficiency, early onset
Corresponding gene ADA
related resource Mutation registry for Adenosine Deaminase Deficiency -ADAbase
Other symbol(s) ADA-SCID
Main clinical features
  • associating immunodeficiency (B-T cell CD4-lympho and thrombopenia), skeletal dysplasia, recurrent respiratory infections and asthma, hepatoplenomegaly, or slow progressive or late onset (partial ADA deficiency)
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name adenosine deaminase