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

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

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...

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Bibliographic Details
Main Authors: Alessia Cafaro, Federica Pigliasco, Sebastiano Barco, Federica Penco, Francesca Schena, Roberta Caorsi, Stefano Volpi, Gino Tripodi, Marco Gattorno, Giuliana Cangemi
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Molecules
Subjects:
LC-MS/MS
Adenosine Deaminase
DADA2
enzyme deficiency
autoinflammatory disease
Online Access:https://www.mdpi.com/1420-3049/26/18/5707

Internet

https://www.mdpi.com/1420-3049/26/18/5707

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