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Article

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants.

The Journal of allergy and clinical immunology - 1 Jan 2025

Santisteban Ines, Arredondo-Vega Francisco X, Bali Pawan, Dalgic Busra, Lee Hyun Ho, Kim Minsoo, Hermanson Jake, Tarrant Teresa K, Hershfield Michael S

Abstract excerpt

BACKGROUND: Deficiency of adenosine deaminase (ADA or ADA1) 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. OBJECTIVE: We systematically assessed the pathogenic potential of rare ADA missense variants to better define the relationship of genotype to red...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39182630
DOI: 10.1016/j.jaci.2024.08.014

Genes

ADA
GC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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