A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: Diagnosis improvement and interpretation of complex clinical phenotypes

Systemic autoinflammatory diseases (SAIDs) are a group of monogenic disorders characterized by inflammation which occurs in the absence of pathogenic auto-antibodies, autoreactive T lymphocytes or other infective causes. More than 50% of SAID patients recruited to our Unit does not show any mutation at gene(s) tested by direct Sanger sequencing in the routine diagnosis. Clinical misdiagnosis, mutations in untested gene regions and genetic heterogeneity are possible explanations.