Mauro Jorini

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OBJECTIVE To provide a rationale for anti-IL-1 treatment in pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) by defining whether IL-1β secretion is enhanced; requires NLRP3; and correlates with proline-serine-threonine phosphatase-interacting protein 1 mutations, disease activity and/or the clinical picture in PAPA. METHODS Monocytes were(More)
Cytophagic histiocytic panniculitis is a rare disease, associated with either nonmalignant conditions or subcutaneous panniculitis-like T-cell lymphoma, and often also associated with hemophagocytic lymphohistiocytosis (HLH). We report the case of a 11-year-old boy with a history of secondary HLH who, after a local trauma, developed a painful, indurated(More)
BACKGROUND Data from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN). METHODS In(More)
Introduction PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an ultra-rare autosomal dominant, autoinflammatory disease associated to mutations in the PSTPIP1/CD2BP1 gene. The therapeutic approach during recurrences consists of steroids, while no agreement exists on the chronic management. Evidences on the use of biologics are(More)
<lb>Methods: The Agilent SureDesign tool was used to design an NGS<lb>panel targeting 113 genes, grouped into 9 broad clinical pheno-<lb>types: autoinflammatory disease; monogenic vasculitis/vasculopa-<lb>thy; complement defects; monogenic lupus; HLH; early-onset<lb>inflammatory bowel disease; autoimmune lymphoproliferative<lb>syndromes; monogenic stroke;(More)
Non-ketonic hyperosmolar hyperglycaemic coma (N.K.H.H.C.) is by no means uncommon in diabetes. Its picture includes sensorial depression, hyperglycaemia, hyperazotemia, marked dehydration and plasma hyperosmolarity. It is mostly found in elderly subjects with non-serious diabetes. Reference is made to 6 personal cases observed during a period of 14 months.(More)
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