Lista de obras - Roberta Caorsi - Dominio Público Uruguay

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

artículo científico publicado en 2015

A child with a novel ACAN missense variant mimicking a septic arthritis

artículo científico publicado en 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

artículo científico publicado en 2017

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

artículo científico publicado en 2017

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion

artículo científico publicado en 2010

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation

artículo científico publicado en 2016

B cells characterization in ADA2 Deficiency patients.

artículo científico publicado en 2015

Biologic drugs in autoinflammatory syndromes

artículo científico publicado en 2012

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

artículo científico publicado en 2017

Canakinumab in the routinary clinical practice in cryopyrin-associated periodic syndromes (CAPS): one year of follow-up.

artículo científico publicado en 2011

Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

artículo científico publicado en 2016

Characterization of tonsil infiltration and gene expression profile of innate sensors in PFAPA patients

article

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review

artículo científico publicado en 2016

Chronic active EBV infection mimicking periodic fever syndromes: a new challenge for the paediatrician

artículo científico publicado en 2014

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

artículo científico publicado en 2012

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

artículo científico publicado en 2011

Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).

artículo científico publicado en 2017

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

artículo científico publicado en 2017

Diagnosis and management of autoinflammatory diseases in childhood.

artículo científico publicado en 2008

Differentiating PFAPA syndrome from monogenic periodic fevers

artículo científico publicado en 2009

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome

artículo científico publicado en 2016

Distinct cerebrovascular features in patients with ADA2 deficiency

artículo científico publicado en 2015

Do parent's global rating of well-being and disease activity of children with juvenile idiopathic arthritis yield different information?

artículo científico publicado en 2008

Dr. Tibaldi, et al reply

scientific article published on 15 June 2019

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

scientific article published on 29 May 2019

Enlarging the clinical spectrum of SAVI syndrome

artículo científico publicado en 2015

Evidences for the need of new Diagnostic Criteria for PFAPA syndrome

artículo científico publicado en 2008

Failure of anti Interleukin-1 β monoclonal antibody in the treatment of recurrent pericarditis in two children

artículo científico publicado en 2020

Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra

artículo científico publicado en 2010

Gene expression profiling in understanding the molecular pathogenesis of and response to canakinumab therapy in traps

artículo científico publicado en 2014

High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

artículo científico publicado en 2017

Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center. ⬇️

artículo científico publicado en 2015

Impact of MEFV genotype in Caucasian children with periodic fever

Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study

artículo científico publicado en 2011

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature.

artículo científico publicado en 2015

Juvenile eosinophilic fasciitis: three case reports with review of the literature

artículo científico publicado en 2016

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene ⬇️

artículo científico publicado en 2011

Long-term efficacy of IL-1 blockers in PAPA patients.

artículo científico publicado en 2015

Long-term efficacy of etanercept in ADA2 deficiency

artículo científico publicado en 2014

Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra.

artículo científico publicado en 2011

Monogenic polyarteritis: the lesson of ADA2 deficiency

artículo científico publicado en 2016

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

artículo científico publicado en 2015

OR5-001 – Characterization of tonsil infiltration in PFAPA.

artículo científico publicado en 2013

Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment

artículo científico publicado en 2014

P02-024 - Clinical impact of V198M mutation in NLRP3 gene

artículo científico publicado en 2013

PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report

artículo científico publicado en 2013

PReS-FINAL-2238: PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome: results from the Eurofever registry

artículo científico publicado en 2013

PReS-FINAL-2324: PAPA syndrome clinical spectrum and IL-1Β release

artículo científico publicado en 2013

PW02-006 - PAPA syndrome clinical spectrum and IL1B release

artículo científico publicado en 2013

PW02-009 - PAPA syndrome: results from the Euroefever registry

artículo científico publicado en 2013

PW02-010 - The diagnostic challenge of bone lesions in AID.

artículo científico publicado en 2013

Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.

artículo científico publicado en 2010

Predictors of Effectiveness of Anakinra in Systemic Juvenile Idiopathic Arthritis

scientific article published on 15 January 2019

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

artículo científico publicado en 2015

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part three: Genoa, Italy. 28 September – 01 October 2016.

artículo científico publicado en 2017

Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever

artículo científico publicado en 2008

Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency

artículo científico publicado en 2015

Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome.

artículo científico publicado en 2015

Response to: 'Standard dose of ustekinumab for childhood-onset deficiency of interleukin-36 receptor antagonist' by Cherqaoui et al.

artículo científico publicado en 2018

Safety and efficacy of early high-dose IV anakinra in severe COVID-19 lung disease

scientific article published on 10 May 2020

Serum amyloid protein A concentration in cryopyrin-associated periodic syndromes patients treated with interleukin-1 beta antagonist

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

The autoinflammatory diseases

artículo científico

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry.

artículo científico publicado en 2015

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

artículo científico publicado en 2013

Towards a new set of classification criteria for PFAPA syndrome

artículo científico publicado en 2018

Type I interferon pathway activation in COPA syndrome

artículo científico publicado en 2017

Type I interferon-mediated autoinflammation due to DNase II deficiency

artículo científico publicado en 2017

Type I interferonopathies in pediatric rheumatology

artículo científico publicado en 2016

Lista de obras de Roberta Caorsi

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

A child with a novel ACAN missense variant mimicking a septic arthritis

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

ADA2 deficiency due to a novel structural variation in 22q11.1.

Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation

B cells characterization in ADA2 Deficiency patients.

Biologic drugs in autoinflammatory syndromes

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Canakinumab in the routinary clinical practice in cryopyrin-associated periodic syndromes (CAPS): one year of follow-up.

Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

Characterization of tonsil infiltration and gene expression profile of innate sensors in PFAPA patients

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review

Chronic active EBV infection mimicking periodic fever syndromes: a new challenge for the paediatrician

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Diagnosis and management of autoinflammatory diseases in childhood.

Differentiating PFAPA syndrome from monogenic periodic fevers

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome

Distinct cerebrovascular features in patients with ADA2 deficiency

Do parent's global rating of well-being and disease activity of children with juvenile idiopathic arthritis yield different information?

Dr. Tibaldi, et al reply

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Enlarging the clinical spectrum of SAVI syndrome

Evidences for the need of new Diagnostic Criteria for PFAPA syndrome

Failure of anti Interleukin-1 β monoclonal antibody in the treatment of recurrent pericarditis in two children

Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra

Gene expression profiling in understanding the molecular pathogenesis of and response to canakinumab therapy in traps

High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center. ⬇️

Impact of MEFV genotype in Caucasian children with periodic fever

Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature.

Juvenile eosinophilic fasciitis: three case reports with review of the literature

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene ⬇️

Long-term efficacy of IL-1 blockers in PAPA patients.

Long-term efficacy of etanercept in ADA2 deficiency

Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra.

Monogenic polyarteritis: the lesson of ADA2 deficiency

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

OR5-001 – Characterization of tonsil infiltration in PFAPA.

Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment

P02-024 - Clinical impact of V198M mutation in NLRP3 gene

PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report

PReS-FINAL-2238: PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome: results from the Eurofever registry

PReS-FINAL-2324: PAPA syndrome clinical spectrum and IL-1Β release

PW02-006 - PAPA syndrome clinical spectrum and IL1B release

PW02-009 - PAPA syndrome: results from the Euroefever registry

PW02-010 - The diagnostic challenge of bone lesions in AID.

Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.

Predictors of Effectiveness of Anakinra in Systemic Juvenile Idiopathic Arthritis

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part three: Genoa, Italy. 28 September – 01 October 2016.

Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever

Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency

Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome.

Response to: 'Standard dose of ustekinumab for childhood-onset deficiency of interleukin-36 receptor antagonist' by Cherqaoui et al.

Safety and efficacy of early high-dose IV anakinra in severe COVID-19 lung disease

Serum amyloid protein A concentration in cryopyrin-associated periodic syndromes patients treated with interleukin-1 beta antagonist

T-cell defects in patients with germline mutations account for combined immunodeficiency

The autoinflammatory diseases

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry.

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

Towards a new set of classification criteria for PFAPA syndrome

Type I interferon pathway activation in COPA syndrome

Type I interferon-mediated autoinflammation due to DNase II deficiency

Type I interferonopathies in pediatric rheumatology