Publications by authors named "Alberto Tommasini"

100Publications

From bone to skin.

J Paediatr Child Health 2020 Sep;56(9):1481

University of Trieste, Pediatrics, Trieste, Italy.

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http://dx.doi.org/10.1111/jpc.1_14839DOI Listing
September 2020

Palmar erythema: A diagnostic clue of juvenile dermatomyositis.

J Paediatr Child Health 2020 Jul;56(7):1159

University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1111/jpc.1_14739DOI Listing
July 2020

Recent Insight into SARS-CoV2 Immunopathology and Rationale for Potential Treatment and Preventive Strategies in COVID-19.

Vaccines (Basel) 2020 May 14;8(2). Epub 2020 May 14.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, 34137 Trieste, Italy.

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http://dx.doi.org/10.3390/vaccines8020224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349555PMC
May 2020

Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.

Clin Exp Rheumatol 2020 Jul-Aug;38(4):760-762. Epub 2020 Apr 23.

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

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September 2020

Corrigendum to "Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency" [Immunol. Lett. 214 (2019) 52-54].

Immunol Lett 2020 Apr 12. Epub 2020 Apr 12.

Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.

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http://dx.doi.org/10.1016/j.imlet.2020.04.001DOI Listing
April 2020

An Easy and Reliable Strategy for Making Type I Interferon Signature Analysis Comparable among Research Centers.

Diagnostics (Basel) 2019 Sep 4;9(3). Epub 2019 Sep 4.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.

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http://dx.doi.org/10.3390/diagnostics9030113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787630PMC
September 2019

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes.

Inflamm Res 2019 Nov 29;68(11):901-904. Epub 2019 Aug 29.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137, Trieste, Italy.

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http://dx.doi.org/10.1007/s00011-019-01277-1DOI Listing
November 2019

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

Immunol Lett 2019 10 20;214:52-54. Epub 2019 Aug 20.

Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia; Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2019.08.003DOI Listing
October 2019

B-cell depletion induces prolonged remission in patients with giant cell hepatitis and autoimmune hemolytic anemia.

Clin Res Hepatol Gastroenterol 2020 02 7;44(1):66-72. Epub 2019 May 7.

Section of Pediatrics, Department of Medical Sciences University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1016/j.clinre.2019.03.010DOI Listing
February 2020

Hughes Stovin: Sustained remission and regression of pulmonary aneurysms with anti-tumor necrosis factor treatment.

Pediatr Pulmonol 2019 06 2;54(6):E13-E15. Epub 2019 Apr 2.

Clinical Department of Medical, Surgical and Health Science, University of Trieste, Trieste, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ppul.24298
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http://dx.doi.org/10.1002/ppul.24298DOI Listing
June 2019

A Case of Uveitis in a Patient With Juvenile Myelomonocytic Leukemia Successfully Treated With Adalimumab.

J Pediatr Hematol Oncol 2020 Jul;42(5):e373-e376

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo".

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http://dx.doi.org/10.1097/MPH.0000000000001448DOI Listing
July 2020

Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?

Neural Regen Res 2019 Apr;14(4):582-587

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

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http://www.nrronline.org/text.asp?2019/14/4/582/247441
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http://dx.doi.org/10.4103/1673-5374.247441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352582PMC
April 2019

The Complex Interplay between Lipids, Immune System and Interleukins in Cardio-Metabolic Diseases.

Int J Mol Sci 2018 Dec 14;19(12). Epub 2018 Dec 14.

Department of Medical, Surgical and Health Sciences, University of Trieste, Cattinara Teaching Hospital, 34149 Trieste, Italy.

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http://www.mdpi.com/1422-0067/19/12/4058
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http://dx.doi.org/10.3390/ijms19124058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321433PMC
December 2018

Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering.

World J Clin Pediatr 2018 Aug 30;7(3):75-82. Epub 2018 Aug 30.

Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, Trieste 34137, Italy.

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http://dx.doi.org/10.5409/wjcp.v7.i3.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125142PMC
August 2018

Fecal Calprotectin to Detect Inflammatory Bowel Disease in Juvenile Idiopathic Arthritis.

J Rheumatol 2018 10 15;45(10):1418-1421. Epub 2018 Jun 15.

From the University of Trieste; Institute for Maternal and Child Health - Institute for Research and Health Care (IRCCS) Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.3899/jrheum.171200DOI Listing
October 2018

Neuronal Dysfunction Associated with Cholesterol Deregulation.

Int J Mol Sci 2018 May 19;19(5). Epub 2018 May 19.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.

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http://dx.doi.org/10.3390/ijms19051523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983599PMC
May 2018

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype.

Inflamm Bowel Dis 2018 05;24(6):1204-1212

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, 'IRCCS 'Burlo Garofolo,' Trieste, Italy.

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https://academic.oup.com/ibdjournal/article/24/6/1204/498575
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http://dx.doi.org/10.1093/ibd/izy061DOI Listing
May 2018

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

Clin Immunol 2018 06 13;191:75-80. Epub 2018 Mar 13.

Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.03.005DOI Listing
June 2018

Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.

J Allergy Clin Immunol Pract 2018 Nov - Dec;6(6):2165-2167. Epub 2018 Mar 3.

Department of Pediatrics, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S22132198183012
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http://dx.doi.org/10.1016/j.jaip.2018.02.029DOI Listing
November 2019

Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection.

Pediatr Int 2018 Mar 26;60(3):315-317. Epub 2018 Feb 26.

Department of Pediatrics, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/ped.13494DOI Listing
March 2018

Dealing with Chronic Non-Bacterial Osteomyelitis: a practical approach.

Pediatr Rheumatol Online J 2017 Dec 29;15(1):87. Epub 2017 Dec 29.

Pediatria 2, Istituto Gaslini, Via Gerolamo Gaslini, 5, 16148, Genoa, Italy.

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http://dx.doi.org/10.1186/s12969-017-0216-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747935PMC
December 2017

Genetic profile of patients with early onset inflammatory bowel disease.

Gene 2018 Mar 15;645:18-29. Epub 2017 Dec 15.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Via dell'istria 65, Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.12.029DOI Listing
March 2018

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.

J Pediatr Hematol Oncol 2018 07;40(5):e323-e326

Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS Burlo Garofolo.

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http://dx.doi.org/10.1097/MPH.0000000000001004DOI Listing
July 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

Reappraisal of Antimalarials in Interferonopathies: New Perspectives for Old Drugs.

Curr Med Chem 2018 ;25(24):2797-2810

Department of Paediatrics, Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.2174/0929867324666170911162331DOI Listing
July 2018

Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.

Curr Med Chem 2018 ;25(24):2764-2782

University of Ljubljana, Faculty of Pharmacy, Aškerčeva 7, Ljubljana, Slovenia.

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http://dx.doi.org/10.2174/0929867324666170830101215DOI Listing
July 2018

Curcumin Anti-Apoptotic Action in a Model of Intestinal Epithelial Inflammatory Damage.

Nutrients 2017 Jun 6;9(6). Epub 2017 Jun 6.

Department of Medicine, Surgery, and Health Sciences, University of Trieste, Strada di Fiume, 447, Trieste 34100, Italy.

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http://dx.doi.org/10.3390/nu9060578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490557PMC
June 2017

response to mucosal bacteria and muramyl dipeptide in inflammatory bowel disease.

World J Gastroenterol 2016 Nov;22(44):9734-9743

Claudia Loganes, Elisa Marini, Samuele Naviglio, Tarcisio Not, Annalisa Marcuzzi, Department of Medicine, Surgery, and Health Sciences, University of Trieste, Strada di Fiume, 447 Trieste, Italy.

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http://dx.doi.org/10.3748/wjg.v22.i44.9734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124978PMC
November 2016

Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease.

World J Gastroenterol 2016 Nov;22(41):9117-9126

Claudia Loganes, Samuele Naviglio, Elisa Piscianz, Department of Medicine, Surgery and Health Sciences, University of Trieste, 34128 Trieste, Italy.

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http://dx.doi.org/10.3748/wjg.v22.i41.9117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107593PMC
November 2016

Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis.

Blood Cells Mol Dis 2016 07 3;59:97-9. Epub 2016 May 3.

Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.bcmd.2016.05.001DOI Listing
July 2016

Action of methotrexate and tofacitinib on directly stimulated and bystander-activated lymphocytes.

Mol Med Rep 2016 Jul 13;14(1):574-82. Epub 2016 May 13.

Department of Paediatrics, Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', I-34137 Trieste, Italy.

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http://dx.doi.org/10.3892/mmr.2016.5263DOI Listing
July 2016

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

J Rheumatol 2016 06 1;43(6):1093-100. Epub 2016 Apr 1.

From the Unità Operativa (UO) Pediatria 2, IRCCS G. Gaslini; Clinica Reumatologica, Dipartimento di Medicina Interna, Università di Genova; Laboratorio di Biologia Cellulare, IRCCS Azienda Ospedaliera Universitaria (AOU) San Martino Istituto Scientifico Tumori (IST); Unità Operativa Complessa (UOC) Genetica Medica, IRCCS G. Gaslini; Università degli Studi di Genova, Genoa; Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia, Siena; Ospedale Bambino Gesù, Rome; Dipartimento di Pediatria, Ospedale Federico II, Naples; Dipartimento di Pediatria, IRCCS Burlo Garofalo, Trieste; Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'Alessandro", Palermo; Centro per lo Studio e la Cura delle Amiloidosi Sistemiche Fondazione IRCCS Policlinico San Matteo, Pavia; Dipartimento Materno-Infantile, Ospedale Gaetano-Martino, Messina, Italy.A. Naselli*, MD, UO Pediatria 2, IRCCS G. Gaslini; F. Penco*, MD, UO Pediatria 2, IRCCS G. Gaslini; L. Cantarini, MD, Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia; A. Insalaco, MD, Ospedale Bambino Gesù; M. Alessio, MD, Dipartimento di Pediatria, Ospedale Federico II; A. Tommasini, MD, Dipartimento di Pediatria, IRCCS Burlo Garofalo; C. Maggio, MD, Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'Alessandro"; L. Obici, MD, Centro per lo Studio e la Cura delle Amiloidosi Sistemiche Fondazione IRCCS Policlinico San Matteo; R. Gallizi, MD, Dipartimento Materno-Infantile, Ospedale Gaetano-Martino; M. Cimmino, MD, Clinica Reumatologica, Dipartimento di Medicina Interna, Università di Genova; S. Signa, MD, UO Pediatria 2, IRCCS G. Gaslini; O.M. Lucherini, MD, Dipartimento di Reumatologia, Policlinico Le Scotte, Università di Siena, UO Reumatologia; S. Carta, MD, Laboratorio di Biologia Cellulare, IRCCS AOU San Martino IST; F. Caroli, MD, UOC Genetica Medica, IRCCS G. Gaslini; A. Martini, MD, UO Pediatri

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http://dx.doi.org/10.3899/jrheum.150962DOI Listing
June 2016

Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance.

Clin Exp Pharmacol Physiol 2016 06;43(6):602-5

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1111/1440-1681.12572DOI Listing
June 2016

Putative modifier genes in mevalonate kinase deficiency.

Mol Med Rep 2016 Apr 22;13(4):3181-9. Epub 2016 Feb 22.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health‑IRCCS 'Burlo Garofolo', Trieste I‑34137, Italy.

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http://dx.doi.org/10.3892/mmr.2016.4918DOI Listing
April 2016

The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.

BMC Pediatr 2015 Dec 15;15:208. Epub 2015 Dec 15.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1186/s12887-015-0522-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678727PMC
December 2015

Genetics of inflammatory bowel disease from multifactorial to monogenic forms.

World J Gastroenterol 2015 Nov;21(43):12296-310

Anna Monica Bianco, Martina Girardelli, Alberto Tommasini, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.

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http://dx.doi.org/10.3748/wjg.v21.i43.12296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649114PMC
November 2015

Fever tree revisited: From malaria to autoinflammatory diseases.

World J Clin Pediatr 2015 Nov 8;4(4):106-12. Epub 2015 Nov 8.

Serena Pastore, Andrea Taddio, Alberto Tommasini, Department of Pediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34137 Trieste, Italy.

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http://dx.doi.org/10.5409/wjcp.v4.i4.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4637800PMC
November 2015

To Extinguish the Fire from Outside the Cell or to Shutdown the Gas Valve Inside? Novel Trends in Anti-Inflammatory Therapies.

Int J Mol Sci 2015 Sep 7;16(9):21277-93. Epub 2015 Sep 7.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - , via dell'Istria, 65/1, Trieste 34137, Italy.

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http://dx.doi.org/10.3390/ijms160921277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613252PMC
September 2015

Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy.

Clin Exp Rheumatol 2015 Sep-Oct;33(5):766. Epub 2015 Aug 27.

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

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December 2015

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Mol Med Rep 2015 Oct 11;12(4):6128-32. Epub 2015 Aug 11.

Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health ‑ IRCCS 'Burlo Garofolo', Trieste, Trieste 34137, Italy.

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http://dx.doi.org/10.3892/mmr.2015.4215DOI Listing
October 2015

Different presentations of mevalonate kinase deficiency: a case series.

Clin Exp Rheumatol 2015 May-Jun;33(3):437-42. Epub 2015 Apr 16.

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

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August 2015

Failure of interferon-γ pre-treated mesenchymal stem cell treatment in a patient with Crohn's disease.

World J Gastroenterol 2015 Apr;21(14):4379-84

Andrea Taddio, Alessandro Ventura, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste and University of Trieste, 34100 Trieste, Italy.

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http://dx.doi.org/10.3748/wjg.v21.i14.4379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394101PMC
April 2015

Wharton's jelly derived mesenchymal stromal cells: Biological properties, induction of neuronal phenotype and current applications in neurodegeneration research.

Acta Histochem 2015 May-Jun;117(4-5):329-38. Epub 2015 Mar 4.

Immunopathology Lab, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.acthis.2015.02.005DOI Listing
March 2016

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls.

Clin Exp Rheumatol 2014 Nov-Dec;32(6):993-4. Epub 2014 Oct 20.

Department of Paediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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March 2015

Clinical significance of hyper-IgA in a paediatric laboratory series.

Arch Dis Child 2014 Dec 22;99(12):1114-6. Epub 2014 Jul 22.

Institute of Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1136/archdischild-2014-306607DOI Listing
December 2014

TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype.

Pharmacogenomics 2014 Apr;15(5):619-27

Institute for Maternal & Child Health (I.R.C.C.S) Burlo Garofolo, UO Pediatric Hemato-Oncology, Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.2217/pgs.13.249DOI Listing
April 2014

In vivo detection of polyomaviruses JCV and SV40 in mesenchymal stem cells from human umbilical cords.

Pediatr Blood Cancer 2014 Aug 13;61(8):1347-9. Epub 2014 Jan 13.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo"-Trieste, Trieste, Italy; Medical Science Department, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1002/pbc.24943DOI Listing
August 2014

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

Int J Mol Sci 2014 Mar 3;15(3):3834-41. Epub 2014 Mar 3.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, Trieste 34137, Italy.

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http://dx.doi.org/10.3390/ijms15033834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975370PMC
March 2014

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling.

J Crohns Colitis 2014 Aug 31;8(8):770-4. Epub 2014 Jan 31.

University of Trieste, Trieste, Italy; Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.crohns.2014.01.013DOI Listing
August 2014

Fate of lymphocytes after withdrawal of tofacitinib treatment.

PLoS One 2014 9;9(1):e85463. Epub 2014 Jan 9.

Department of Paediatrics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085463PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887061PMC
September 2014

Selective IgA deficiency: ruling out coeliac disease and selective antibody deficiency to polysaccharides.

J Clin Immunol 2013 Oct 5;33(7):1149. Epub 2013 Jul 5.

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

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http://dx.doi.org/10.1007/s10875-013-9919-9DOI Listing
October 2013

Hemophagocytic lymphohistiocytosis in total parenteral nutrition dependent children: description of 5 cases and practical tips for management.

J Pediatr Hematol Oncol 2014 Oct;36(7):e440-2

*Department of Pediatrics, University of Trieste †Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1097/MPH.0b013e31829f381bDOI Listing
October 2014

Genetic and functional profiling of Crohn's disease: autophagy mechanism and susceptibility to infectious diseases.

Biomed Res Int 2013 8;2013:297501. Epub 2013 May 8.

Institute for Maternal and Child Health-IRCCS Burlo Garofolo of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1155/2013/297501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662122PMC
December 2013

Clinical genetic testing of periodic fever syndromes.

Biomed Res Int 2013 1;2013:501305. Epub 2013 Jan 1.

Laboratory of Immunopathology, Institute for Maternal and Child Health (IRCCS) "Burlo Garofolo", 34137 Trieste, Italy.

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http://dx.doi.org/10.1155/2013/501305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581266PMC
September 2013

"Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name?

Rheumatol Int 2014 Mar 15;34(3):423-4. Epub 2013 Feb 15.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy,

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http://dx.doi.org/10.1007/s00296-013-2702-7DOI Listing
March 2014

A red baby should not be taken too lightly.

Acta Paediatr 2012 Dec 23;101(12):e573-7. Epub 2012 Sep 23.

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

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http://dx.doi.org/10.1111/apa.12018DOI Listing
December 2012

Defective and excessive immunities in pediatric diseases.

Curr Pharm Des 2012 ;18(35):5729-34

Division of Immunology, Children's Hospital Boston, Harvard Medical School, Karp 9, 09210, 1 Blackfan Circle, Boston, MA 02115, USA.

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http://dx.doi.org/10.2174/138161212803530943DOI Listing
May 2013

JCV+ Patients with Inflammatory bowel disease show elevated plasma levels of MIG and SCF.

Inflamm Bowel Dis 2012 Jun 29;18(6):1194-6. Epub 2012 Mar 29.

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

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http://dx.doi.org/10.1002/ibd.22953DOI Listing
June 2012

The MDM2 inhibitor Nutlin-3 modulates dendritic cell-induced T cell proliferation.

Hum Immunol 2012 Apr 13;73(4):342-5. Epub 2012 Feb 13.

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

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http://dx.doi.org/10.1016/j.humimm.2012.01.018DOI Listing
April 2012

A common genetic background could explain early-onset Crohn's disease.

Med Hypotheses 2012 Apr 10;78(4):520-2. Epub 2012 Feb 10.

Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1016/j.mehy.2012.01.023DOI Listing
April 2012

Inflammation profile of four early onset Crohn patients.

Gene 2012 Feb 6;493(2):282-5. Epub 2011 Dec 6.

Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119110071
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http://dx.doi.org/10.1016/j.gene.2011.11.043DOI Listing
February 2012

Differential action of 3-hydroxyanthranilic acid on viability and activation of stimulated lymphocytes.

Int Immunopharmacol 2011 Dec 3;11(12):2242-5. Epub 2011 Oct 3.

Department of Medical Sciences, University of Trieste, Strada di Fiume 447, 34139 Trieste, Italy.

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http://dx.doi.org/10.1016/j.intimp.2011.09.009DOI Listing
December 2011

Immunomodulatory drugs in autoimmune lymphoproliferative syndrome (ALPS).

Pediatr Blood Cancer 2012 Feb 14;58(2):310; author reply 311. Epub 2011 Jun 14.

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http://dx.doi.org/10.1002/pbc.23205DOI Listing
February 2012

The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.

Pediatr Res 2011 Jul;70(1):78-82

Medical Genetic Service, Institute for Maternal and Child Health Burlo Garofolo, Trieste 34134, Italy.

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http://dx.doi.org/10.1203/PDR.0b013e31821b581cDOI Listing
July 2011

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Eur J Immunol 2011 Apr 14;41(4):1120-31. Epub 2011 Mar 14.

San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/eji.201040909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107421PMC
April 2011

The universe of immune deficiencies in Crohn's disease: a new viewpoint for an old disease?

Scand J Gastroenterol 2010 Oct;45(10):1141-9

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

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http://dx.doi.org/10.3109/00365521.2010.492529DOI Listing
October 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

Natural isoprenoids inhibit LPS-induced-production of cytokines and nitric oxide in aminobisphosphonate-treated monocytes.

Int Immunopharmacol 2010 Jun 18;10(6):639-42. Epub 2010 Mar 18.

Department of Reproductive and Developmental Sciences, University of Trieste, Italy.

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http://dx.doi.org/10.1016/j.intimp.2010.03.008DOI Listing
June 2010

Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches.

Pharmacol Res 2010 Jun 3;61(6):506-10. Epub 2010 Mar 3.

Department of Reproductive and Developmental Sciences, and Public Healthcare, University of Trieste, Italy.

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http://dx.doi.org/10.1016/j.phrs.2010.02.012DOI Listing
June 2010

Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency.

Inflamm Res 2010 May 21;59(5):335-8. Epub 2010 Feb 21.

Paediatric Division, Institute of Child Health, IRCCS Burlo Garofolo, via dell'Istria 65/1, 34137, Trieste, Italy.

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http://dx.doi.org/10.1007/s00011-010-0168-6DOI Listing
May 2010

The immunosuppressive effect of Wharton's jelly stromal cells depends on the timing of their licensing and on lymphocyte activation.

Cytotherapy 2010 Apr;12(2):154-60

Institute for Maternal and Child Health IRCCS Burlo Garofolo and University of Trieste, Laboratories of Immunopathology, 34137 Trieste, Italy.

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http://dx.doi.org/10.3109/14653240903493417DOI Listing
April 2010

Selective resistance to different glucocorticoids in severe autoimmune disorders.

Clin Immunol 2010 Mar 4;134(3):313-9. Epub 2009 Dec 4.

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

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http://dx.doi.org/10.1016/j.clim.2009.11.005DOI Listing
March 2010