Abstract
Adenosine deaminase (ADA), a soluble zinc-containing enzyme of the purine nucleoside inter-conversion pathway, plays an essential role in the development of immune function. Most patients with inherited deficiency of ADA have severe combined immunodeficiency (SCID). This is a fatal syndrome with onset in infancy that results from a depletion of all lymphocyte lineages owing to toxic effects of ADA substrates adenosine (Ado) and 2′-deoxyadenosine (dAdo). A milder immune deficiency (“delayed” or “late/adult” onset) also occurs, and some healthy children and adults have been identified through screening as lacking ADA in erythrocytes, while having variable ADA activity in their nucleated cells and cell lines (“partial ADA deficiency”). Although erythrocyte ADA activity is low in all patients, clinical severity correlates well with the level of erythrocyte dAdo nucleotides (dAXP, mainly dATP).
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© 2003 Humana Press Inc., Totowa, NJ
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Santisteban, I., Arredondo-Vega, F.X., Daniels, S., Hershfield, M.S. (2003). E. coli Expression System for Identifying Folding Mutations of Human Adenosine Deaminase. In: Bross, P., Gregersen, N. (eds) Protein Misfolding and Disease. Methods in Molecular Biology™, vol 232. Humana Press. https://doi.org/10.1385/1-59259-394-1:175
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DOI: https://doi.org/10.1385/1-59259-394-1:175
Publisher Name: Humana Press
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