about
Type I interferonopathies in pediatric rheumatologyLong-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A geneClinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.Diagnosis and management of autoinflammatory diseases in childhood.Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.Juvenile eosinophilic fasciitis: three case reports with review of the literature.Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population.Differentiating PFAPA syndrome from monogenic periodic fevers.Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.Do parent's global rating of well-being and disease activity of children with juvenile idiopathic arthritis yield different information?Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever.Evidences for the need of new Diagnostic Criteria for PFAPA syndrome.PReS-FINAL-2238: PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome: results from the Eurofever registry.PW02-010 - The diagnostic challenge of bone lesions in AID.P02-024 - Clinical impact of V198M mutation in NLRP3 gene.PW02-009 - PAPA syndrome: results from the Euroefever registry.OR5-001 – Characterization of tonsil infiltration in PFAPA.PW02-006 - PAPA syndrome clinical spectrum and IL1B release.PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report.PReS-FINAL-2324: PAPA syndrome clinical spectrum and IL-1Β release.Long-term efficacy of etanercept in ADA2 deficiency.Gene expression profiling in understanding the molecular pathogenesis of and response to canakinumab therapy in traps.Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency.Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study.Distinct cerebrovascular features in patients with ADA2 deficiency.Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra.Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment.Long-term efficacy of IL-1 blockers in PAPA patients.The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry.Juvenile eosinophilic fasciitis: report of three cases with a review of the literature.Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome.Enlarging the clinical spectrum of SAVI syndrome.Canakinumab in the routinary clinical practice in cryopyrin-associated periodic syndromes (CAPS): one year of follow-up.A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.B cells characterization in ADA2 Deficiency patients.Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center.Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Roberta Caorsi
@ast
Roberta Caorsi
@en
Roberta Caorsi
@es
Roberta Caorsi
@sl
type
label
Roberta Caorsi
@ast
Roberta Caorsi
@en
Roberta Caorsi
@es
Roberta Caorsi
@sl
prefLabel
Roberta Caorsi
@ast
Roberta Caorsi
@en
Roberta Caorsi
@es
Roberta Caorsi
@sl
P1053
K-8608-2016
P106
P21
P31
P3829
P496
0000-0003-0131-7846