A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot
| العنوان: | A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot |
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| المؤلفون: | Alessia Cafaro, Gino Tripodi, Marco Gattorno, Sebastiano Barco, Francesca Schena, Giuliana Cangemi, Stefano Volpi, Federica Pigliasco, Federica Penco, Roberta Caorsi |
| المصدر: | Molecules Volume 26 Issue 18 Molecules, Vol 26, Iss 5707, p 5707 (2021) |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adenosine Deaminase 2 Deficiency, Adult, Male, Adolescent, Adenosine Deaminase, Autoinflammatory disease, DADA2, Enzyme deficiency, LC-MS/MS, Agammaglobulinemia, Biomarkers, Child, Dried Blood Spot Testing, Female, Homozygote, Humans, Middle Aged, Mutation, Phenotype, Severe Combined Immunodeficiency, Tandem Mass Spectrometry, Tumor Necrosis Factor Inhibitors, Pharmaceutical Science, DNA sequencing, Article, Analytical Chemistry, QD241-441, Adenosine deaminase, autoinflammatory disease, Drug Discovery, Lc ms ms, Medicine, Physical and Theoretical Chemistry, Gene, chemistry.chemical_classification, biology, business.industry, Organic Chemistry, Molecular biology, Enzyme assay, Enzyme, chemistry, Chemistry (miscellaneous), biology.protein, Molecular Medicine, enzyme deficiency, business |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| تدمد: | 1420-3049 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9f09c2ac7488e47021759f1bf21903Test https://pubmed.ncbi.nlm.nih.gov/34577178Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1f9f09c2ac7488e47021759f1bf21903 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14203049 |
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