A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

doi:10.1038/s41431-018-0130-6

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Article

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

European journal of human genetics : EJHG - 1 Jul 2018

Rama Mélanie, Duflos Claire, Melki Isabelle, Bessis Didier, Bonhomme Axelle, Martin Hélène, Doummar Diane, Valence Stéphanie, Rodriguez Diana, Carme Emilie, Genevieve David, Heimdal Ketil, Insalaco Antonella, Franck Nathalie, Queyrel-Moranne Viviane, Tieulie Nathalie, London Jonathan, Uettwiller Florence, Georgin-Lavialle Sophie, Belot Alexandre, Koné-Paut Isabelle, Hentgen Véronique, Boursier Guilaine, Touitou Isabelle, Sarrabay Guillaume

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing....

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PMID: 29681619
DOI: 10.1038/s41431-018-0130-6
PMCID: PMC6018671

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CRP
ADA2

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