title: The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation.
abstract: Autoinflammatory diseases (AID) are inherited errors of innate immunity which, although individually uncommon, collectively set up an emerging chapter of medicine. Careful analysis and identification of AID is essential to prompt effective treatment and improve survival and quality of life in these patients. Research into pediatric AID is lagging behind studies in adults, though a better understanding of AID in infancy could lead to improved diagnostic protocols and reduce long-term disability. This review provides a detailed summary of monogenic AID in childhood to help pediatricians correctly recognize these conditions and also highlight recent developments in the laboratory diagnostic work-up.
authors.affiliation: Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy. drigante@gmail.com
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D002648:Child; D019411:Clinical Laboratory Techniques / Q000379:methods*; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans