0000000001155502

AUTHOR

Orso Maria Lucherini

showing 5 related works from this author

Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)

2019

Introduction: Cryopyrin associated periodic syndromes (CAPS) are rare autoinflammatory disorders associated with dominantly gain-offunction mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. It has been reported that oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) are released together with IL-1beta and active caspase-1 subunits after activation of the inflammosome complex and that patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: The diagnosis of CAPS is a critical factor due…

Settore MED/38 - Pediatria Generale E SpecialisticaCAPS TRAPS ASC
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Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated perio…

2015

Abstract TNFR-associated periodic syndrome is an autoinflammatory disorder caused by autosomal-dominant mutations in TNFRSF1A, the gene encoding for TNFR superfamily 1A. The lack of knowledge in the field of TNFR-associated periodic syndrome biology is clear, particularly in the context of control of immune self-tolerance. We investigated how TNF-α/TNFR superfamily 1A signaling can affect T cell biology, focusing on conventional CD4+CD25− and regulatory CD4+CD25+ T cell functions in patients with TNFR-associated periodic syndrome carrying either high or low penetrance TNFRSF1A mutations. Specifically, we observed that in high penetrance TNFR-associated periodic syndrome, at the molecular le…

Male0301 basic medicinePenetranceAutoimmunitymedicine.disease_causeT-Lymphocytes RegulatoryImmune toleranceSettore MED/38 - Pediatria Generale E SpecialisticaTRAPS; Tconvs; Tregs; autoimmunity; immune toleranceImmunology and AllergyIL-2 receptorChildGeneticsMutationTconvTOR Serine-Threonine Kinaseshemic and immune systemsMiddle AgedAcquired immune systemPenetranceTregSTAT Transcription Factorsmedicine.anatomical_structureReceptors Tumor Necrosis Factor Type ICytokinesFemalebiological phenomena cell phenomena and immunitySignal TransductionAdultAdolescentFeverT cellAutoimmunity; Immune tolerance; Tconvs; Tregs; TRAPS; Cell Biology; ImmunologyImmunologyReceptors Antigen T-CellContext (language use)Tregs[object Object]BiologyImmunophenotypingYoung Adult03 medical and health sciencesImmune systemmedicineHumansAgedCell ProliferationDemographyTconvsImmune toleranceHereditary Autoinflammatory DiseasesTRAPSCell Biologybiological factors030104 developmental biologyMutationCancer research
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Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

2016

Objective.The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).Methods.Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the…

0301 basic medicineMalePathologyMonocyteGastroenterologyMonocytesInflammasome0302 clinical medicineCRYOPYRIN-ASSOCIATED PERIODIC SYNDROMEImmunology and AllergyYoung adultChildeducation.field_of_studyCRYOPYRINMiddle AgedInterleukin-1βPhenotypeArthralgiaPhenotypeChild PreschoolNational studyCytokinesFemaleHumanAdultCryopyrinmedicine.medical_specialtyAdolescentImmunologyPopulationNLR Family03 medical and health sciencesYoung AdultRheumatologyNLRP3Internal medicineNLR Family Pyrin Domain-Containing 3 ProteinmedicineHumansPreschooleducationCytokineAllele frequencyGene030203 arthritis & rheumatologybusiness.industryCryopyrin-associated periodic syndromeInfantExanthemamedicine.diseasePyrin Domain-Containing 3 ProteinCryopyrin-Associated Periodic SyndromesINTERLEUKIN-1βCryopyrin-Associated Periodic Syndrome030104 developmental biologyINFLAMMASOMEMutationCryopyrin; Cryopyrin-Associated Periodic Syndrome; Inflammasome; Interleukin-1β; NLRP3; Adolescent; Adult; Arthralgia; Child; Child Preschool; Cryopyrin-Associated Periodic Syndromes; Cytokines; Exanthema; Female; Humans; Infant; Male; Middle Aged; Monocytes; NLR Family Pyrin Domain-Containing 3 Protein; Young Adult; Mutation; PhenotypeCytokine secretionbusinessCRYOPYRIN; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME; INFLAMMASOME; INTERLEUKIN-1β; NLRP3
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The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

Adultmedicine.medical_specialtyReferralProinflammatory cytokineDiagnosis DifferentialRheumatologyAcquired immunodeficiency syndrome (AIDS)Internal medicinePeriodic feverMedicineHumansAge FactorChildGenetic disorderInnate immune systembusiness.industryHereditary Autoinflammatory DiseasesAge FactorsGeneral Medicinemedicine.diseaseAdulthoodInterleukin-1βRheumatologyImmunity InnateHereditary Autoinflammatory DiseasePeriodic feverSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyRecurrent feverImmunologyAutoinflammationbusinessAutoinflammatory DisordersHuman
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EVALUATION OF SERUM LEVELS OF ASC FOR THE DIAGNOSIS AND MONITORING OF CRYOPYRIN ASSOCIATED PERIODIC SYNDROMES (CAPS)

2019

Background: Dominantly gain-of-function mutations in the NLRP3 gene lead to Cryopyrin associated periodic syndromes (CAPS) characterized by constitutive activation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. IL-1beta and active caspase-1 subunits are released in the serum together with the oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) after activation of the inflammosome complex and, as a consequence, patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: Patients suffering from CAPS are characterized by clinical manifestation si…

Settore MED/38 - Pediatria Generale E SpecialisticaCAPS ASC IL-1 beta IL-18
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