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Article

A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.

Molecules (Basel, Switzerland) - 21 Sept 2021

Cafaro Alessia, Pigliasco Federica, Barco Sebastiano, Penco Federica, Schena Francesca, Caorsi Roberta, Volpi Stefano, Tripodi Gino, Gattorno Marco, Cangemi Giuliana

Abstract excerpt

Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic, autoinflammatory disease caused by the loss of functional homozygous or heterozygous mutations in the ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1). A timely diagnosis is crucial to start Anti-TNF therapies that are efficacious in controlling the disease. The confirmation of DADA2 is based on DNA sequencing and enzymatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34577178
DOI: 10.3390/molecules26185707
PMCID: PMC8469151

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