Article
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Annals of the rheumatic diseases - 1 Aug 2016
Rusmini Marta, Federici Silvia, Caroli Francesco, Grossi Alice, Baldi Maurizia, Obici Laura, Insalaco Antonella, Tommasini Alberto, Caorsi Roberta, Gallo Eleonora, Olivieri Alma Nunzia, Marzano AngeloValerio, Coviello Domenico, Ravazzolo Roberto, Martini Alberto, Gattorno Marco, Ceccherini Isabella
Abstract excerpt
OBJECTIVES: Systemic auto-inflammatory disorders (SAIDs) are a heterogeneous group of monogenic diseases sharing a primary dysfunction of the innate immune system. More than 50% of patients with SAID does not show any mutation at gene(s) tested because of lack of precise clinical classification criteria and/or incomplete gene screening. To improve the molecular diagnosis and genotype interpretation of SAIDs, we...
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