title: Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.
abstract: Adenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequenced and the ADA three-dimensional structure solved. The relationship between genotype and phenotype is being analysed, and ADA deficiency has become a focus for novel approaches to enzyme replacement and gene therapy.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: M S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: F X
authors.initials: FX
authors.lastname: Arredondo-Vega
authors.forename: I
authors.initials: I
authors.lastname: Santisteban
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D000818:Animals; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics
chemical_list: D000243:Adenosine Deaminase