Importance of the determination of enzymatic activity in the

Medicina clinica · Sep 2022

Case Reports Multicenter Study

Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2).

To describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2). ⋯ The reduced enzymatic detection of ADA2 confirms the diagnosis of DADA2, particularly important in carriers of variants of uncertain significance in CECR1.

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- Adrián Abbasi, Marta Batllori, Francisco Jose Gil-Sáez, Ignasi Rodríguez-Pintó, Jordi Antón López, and Estíbaliz Iglesias Jímenez.
- Servicio de Enfermedades del Sistema Inmune-Reumatología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España. Electronic address: abbasi.adrian@gmail.com.
- Med Clin (Barc). 2022 Sep 23; 159 (6): 283-286.
ObjectiveTo describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2).MethodRetrospective multicenter study. Review with analysis of the clinical, biochemical and genetic data of the patients in whom the enzymatic activity of ADA2 has been determined by spectrophotometric method.ResultIn 3 of the 20 patients, the diagnosis of DADA2 was confirmed by the combination of reduced enzyme activity and biallelic pathogenic variants in the CECR1 gene. In 2 patients with variants of uncertain significance in CECR1, the study of enzymatic activity allowed to rule out the disease.ConclusionsThe reduced enzymatic detection of ADA2 confirms the diagnosis of DADA2, particularly important in carriers of variants of uncertain significance in CECR1.Copyright © 2022 Elsevier España, S.L.U. All rights reserved.

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Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2).

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