Abstract
Autoinflammatory disorders (AIDs) represent an expanding group of complex diseases characterized by periodic or chronic systemic inflammations. Mutations in more than 15 geneshave been associated with autoinflammatory recessive or dominant syndromes. Next Generation Sequencing (NGS) has emerged in the last year as new diagnostic tool in this field.
Highlights
Autoinflammatory disorders (AIDs) represent an expanding group of complex diseases characterized by periodic or chronic systemic inflammations
15 familial study to unravel the segregation of some variants
We developed Next Generation Sequencing (NGS) starting with 11 genes already known to be involved in
Summary
Autoinflammatory disorders (AIDs) represent an expanding group of complex diseases characterized by periodic or chronic systemic inflammations. Mutations in more than 15 geneshave been associated with autoinflammatory recessive or dominant syndromes. Generation Sequencing (NGS) has emerged in the last year as new diagnostic tool in this field. 23,4% have variants in MEFV, the most frequent variant is E148Q (22%). 4% have variants in MVK, V377I (100%). 10,38% have variants in TNFRSF1A, the most frequent variant is R121Q (75%). 69% of the patients present variant in only one gene; 28,57% present variants in two different genes and two patients in three genes. We performed 15 familial study to unravel the segregation of some variants
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