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Evolving Spectrum of Adenosine Deaminase Deficiency: Assessing Genotype Pathogenicity Based on Expressed ADA Activity of 46 Variants

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Authors

Inés Santistéban,Francisco Arredondo-Vega

Pawan Bali,Buket Dalgıç,Hyun Lee,Minsoo Kim,Jake Hermanson,Teresa Tarrant

+6 authors

,Michael Hershfield

Journal

Journal of Allergy and Clinical Immunology

Published

Aug 1, 2024

DOI

10.1016/j.jaci.2024.08.014

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Abstract

Deficiency of adenosine deaminase 1 (ADA) has broad clinical and genetic heterogeneity. Screening techniques can identify asymptomatic infants whose phenotype and prognosis are indeterminate, and who may carry ADA variants of unknown significance.

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