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Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency
Author(s) -
Hershfield M. S.,
ArredondoVega F. X.,
Santisteban I.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005300621350
Subject(s) - adenosine deaminase , adenosine deaminase deficiency , human genetics , genetics , amp deaminase , medicine , genetic enhancement , biology , adenosine , gene
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.