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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Detalles Bibliográficos
Autores principales: Cafaro, Alessia, Pigliasco, Federica, Barco, Sebastiano, Penco, Federica, Schena, Francesca, Caorsi, Roberta, Volpi, Stefano, Tripodi, Gino, Gattorno, Marco, Cangemi, Giuliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469151/
https://www.ncbi.nlm.nih.gov/pubmed/34577178
http://dx.doi.org/10.3390/molecules26185707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469151/
https://www.ncbi.nlm.nih.gov/pubmed/34577178
http://dx.doi.org/10.3390/molecules26185707

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