Roberta Caorsi

Roberta Caorsi

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Roberta Caorsi

Roberta Caorsi

Publications by authors named "Roberta Caorsi"

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Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23.

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):163. Epub 2019 Jul 2.

Paediatric Rheumatology Clinic, IRCCS Istituto Giannina Gallini, Genoa, Italy.

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January 2020

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

Ital J Pediatr 2019 Nov 20;45(1):148. Epub 2019 Nov 20.

Pediatric Rheumatology Clinic, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy.

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http://dx.doi.org/10.1186/s13052-019-0719-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868685PMC
November 2019

Dr. Tibaldi, reply.

J Rheumatol 2019 Oct 15;46(10):1424. Epub 2019 Jun 15.

Università degli Studi di Genova and Institute for Research and Health Care Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.3899/jrheum.190551DOI Listing
October 2019

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

J Allergy Clin Immunol 2019 Jun 13;143(6):2296-2299. Epub 2019 Feb 13.

Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677392PMC
June 2019

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

Clin Genet 2019 06 28;95(6):732-733. Epub 2019 Mar 28.

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1111/cge.13518DOI Listing
June 2019

Predictors of Effectiveness of Anakinra in Systemic Juvenile Idiopathic Arthritis.

J Rheumatol 2019 04 15;46(4):416-421. Epub 2019 Jan 15.

From the Università degli Studi di Genova, and the Istituto Giannina Gaslini, Genoa; Fondazione Institute for Research and Health Care (IRCCS) Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Instituto de Criança - Faculty of Medicine of the University of São Paulo (FMUSP), São Paulo, Brazil.

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http://www.jrheum.org/lookup/doi/10.3899/jrheum.180331
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http://dx.doi.org/10.3899/jrheum.180331DOI Listing
April 2019

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

Ann Rheum Dis 2018 12 13;77(12):e89. Epub 2018 Jan 13.

Rheumatology Unit, G Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1136/annrheumdis-2017-212832DOI Listing
December 2018

Towards a new set of classification criteria for PFAPA syndrome.

Pediatr Rheumatol Online J 2018 Sep 21;16(1):60. Epub 2018 Sep 21.

Unité Romande d'Immuno-rhumatologie Pédiatrique, CHUV, University of Lausanne, Lausanne and HUG, Geneva, Switzerland.

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http://dx.doi.org/10.1186/s12969-018-0277-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151014PMC
September 2018

Type I interferon pathway activation in COPA syndrome.

Clin Immunol 2018 02 10;187:33-36. Epub 2017 Oct 10.

Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2017.10.001DOI Listing
February 2018

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

J Rheumatol 2017 Nov 15;44(11):1667-1673. Epub 2017 Sep 15.

From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell'Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L'Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic-Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.3899/jrheum.170041DOI Listing
November 2017

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

Clin Exp Rheumatol 2017 May-Jun;35(3):516-517. Epub 2017 Mar 23.

2nd Department of Paediatrics, Giannina Gaslini Institute, Genova, Italy.

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August 2017

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

Orphanet J Rare Dis 2016 12 7;11(1):167. Epub 2016 Dec 7.

UO Pediaria II, G. Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1186/s13023-016-0542-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142346PMC
December 2016

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Immunol Lett 2016 09 1;177:22-4. Epub 2016 Jul 1.

Department of Pediatrics, University of Brescia, Italy.

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http://dx.doi.org/10.1016/j.imlet.2016.07.001DOI Listing
September 2016

Monogenic polyarteritis: the lesson of ADA2 deficiency.

Pediatr Rheumatol Online J 2016 Sep 8;14(1):51. Epub 2016 Sep 8.

UO Pediatria II, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1186/s12969-016-0111-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015262PMC
September 2016

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

Clin Exp Rheumatol 2016 May-Jun;34(3):527-30. Epub 2016 May 30.

UOC Pediatria II, Reumatologia, Istituto Giannina Gaslini, Genoa, Italy.

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August 2016

Type I interferonopathies in pediatric rheumatology.

Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. Epub 2016 Jun 4.

U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1186/s12969-016-0094-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893274PMC
June 2016

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

Clin Exp Rheumatol 2014 Jul-Aug;32(4 Suppl 84):S63-6. Epub 2014 Jul 17.

Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo' and University of Trieste, Italy.

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December 2014

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

J Rheumatol 2014 Nov;41(11):2333-4

Unità Operativa Pediatria II, Giannina Gaslini Institute; Department of Pediatrics, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.3899/jrheum.140060DOI Listing
November 2014

Biologic drugs in autoinflammatory syndromes.

Autoimmun Rev 2012 Nov 2;12(1):81-6. Epub 2012 Aug 2.

Department of Paediatrics, University of Genoa, Pediatria II, Reumatologia, IRCCS G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.autrev.2012.07.027DOI Listing
November 2012

The autoinflammatory diseases.

Swiss Med Wkly 2012 19;142:w13602. Epub 2012 Jun 19.

UO Pediatria II - Reumatologia, Ospedale G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.4414/smw.2012.13602DOI Listing
October 2012

Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.

Curr Opin Rheumatol 2010 Sep;22(5):579-84

UO Pediatria II, G. Gaslini Institute and Department of Pediatrics, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1097/BOR.0b013e32833cc9cbDOI Listing
September 2010

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

J Pediatr 2010 Aug 15;157(2):310-315.e1. Epub 2010 May 15.

IRCCS Burlo Garofolo, the Department of Reproductive and Developmental Sciences, University of Trieste, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2010.02.040DOI Listing
August 2010

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

Proc Natl Acad Sci U S A 2010 May 5;107(21):9789-94. Epub 2010 May 5.

Cell Biology Unit, National Cancer Research Institute, 16132 Genoa, Italy.

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http://dx.doi.org/10.1073/pnas.1000779107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2906851PMC
May 2010

Diagnosis and management of autoinflammatory diseases in childhood.

J Clin Immunol 2008 May 27;28 Suppl 1:S73-83. Epub 2008 Mar 27.

2nd Division of Pediatrics, G. Gaslini Scientific Institute, Largo G. Gaslini 5, 16147, Genova, Italy.

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http://link.springer.com/10.1007/s10875-008-9178-3
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http://dx.doi.org/10.1007/s10875-008-9178-3DOI Listing
May 2008