ADAbase: Adenosine deaminase deficiency (ADA)

Version 1.3 last updated 6 August, 2007 contains 72 public entries


Curated:	Mauno Vihinen and Michael Hershfield
Maintained by:	Jouni Väliaho
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Short description of the ADAbase :

Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. ADA follows PNP in purine nucleoside catabolism, but deficiency in this enzyme causes even more severe symptoms than PNP deficiency, which is a T cell deficiency. ADA degrades toxic adenosine and deoxyadenosine, which accumulate in the cells of patients. Immature lymphoid cells are particularly sensitive to these nucleotides. In addition to immunological defect, most patients with ADA deficiency also have skeletal abnormalities.

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome - Database for genes and proteins of the Human Immune System
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: ADAbase