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Article

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

by
Alessia Cafaro
1,†,
Federica Pigliasco
1,†,
Sebastiano Barco
1,*,
Federica Penco
2,
Francesca Schena
2,
Roberta Caorsi
2,3,
Stefano Volpi
2,4,
Gino Tripodi
1,
Marco Gattorno
2,3 and
Giuliana Cangemi
1
1
Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
2
Center for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
3
Clinics of Pediatrics and Rheumatology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
4
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, University of Genoa, 16132 Genoa, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Molecules 2021, 26(18), 5707; https://doi.org/10.3390/molecules26185707
Submission received: 17 August 2021 / Revised: 16 September 2021 / Accepted: 16 September 2021 / Published: 21 September 2021
(This article belongs to the Special Issue Application of LC–MS/MS to Biochemistry)
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Abstract

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 assay. It is, thus, very important to have robust and reliable assays that can be rapidly utilized in specialized laboratories that can centralize samples from other centers. In this paper, we show a novel enzymatic assay based on liquid chromatography-tandem mass spectrometry that allows the accurate determination of the ADA2 enzyme activity starting from very small amounts of plasma spotted on filter paper (dried plasma spot). The method allows significantly distinguishing healthy controls from affected patients and carriers and could be of help in implementing the diagnostic workflow of DADA2.
Keywords: LC-MS/MS; Adenosine Deaminase; DADA2; enzyme deficiency; autoinflammatory disease LC-MS/MS; Adenosine Deaminase; DADA2; enzyme deficiency; autoinflammatory disease

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MDPI and ACS Style

Cafaro, A.; Pigliasco, F.; Barco, S.; Penco, F.; Schena, F.; Caorsi, R.; Volpi, S.; Tripodi, G.; Gattorno, M.; Cangemi, G. A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot. Molecules 2021, 26, 5707. https://doi.org/10.3390/molecules26185707

AMA Style

Cafaro A, Pigliasco F, Barco S, Penco F, Schena F, Caorsi R, Volpi S, Tripodi G, Gattorno M, Cangemi G. A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot. Molecules. 2021; 26(18):5707. https://doi.org/10.3390/molecules26185707

Chicago/Turabian Style

Cafaro, Alessia, Federica Pigliasco, Sebastiano Barco, Federica Penco, Francesca Schena, Roberta Caorsi, Stefano Volpi, Gino Tripodi, Marco Gattorno, and Giuliana Cangemi. 2021. "A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot" Molecules 26, no. 18: 5707. https://doi.org/10.3390/molecules26185707

APA Style

Cafaro, A., Pigliasco, F., Barco, S., Penco, F., Schena, F., Caorsi, R., Volpi, S., Tripodi, G., Gattorno, M., & Cangemi, G. (2021). A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot. Molecules, 26(18), 5707. https://doi.org/10.3390/molecules26185707

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