Silvia Giliani

Silvia Giliani

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Silvia Giliani

Silvia Giliani

Publications by authors named "Silvia Giliani"

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Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Stem Cell Res 2020 Jan 20;42:101660. Epub 2019 Nov 20.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101660DOI Listing
January 2020

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Stem Cell Res 2019 12 14;41:101580. Epub 2019 Sep 14.

"Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101580DOI Listing
December 2019

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Stem Cell Res 2019 12 22;41:101620. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101620DOI Listing
December 2019

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Stem Cell Res 2019 12 22;41:101623. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; "Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101623DOI Listing
December 2019

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease.

Stem Cell Res 2019 10 23;40:101548. Epub 2019 Aug 23.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101548DOI 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

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Authors:
Reza Yazdani Hassan Abolhassani Fatemeh Kiaee Sima Habibi Gholamreza Azizi Marzieh Tavakol Zahra Chavoshzadeh Seyed Alireza Mahdaviani Tooba Momen Mohammad Gharagozlou Masoud Movahedi Amir Ali Hamidieh Nasrin Behniafard Mohammamd Nabavi Mohammad Hassan Bemanian Saba Arshi Rasol Molatefi Roya Sherkat Afshin Shirkani Reza Amin Soheila Aleyasin Reza Faridhosseini Farahzad Jabbari-Azad Iraj Mohammadzadeh Javad Ghaffari Alireza Shafiei Arash Kalantari Mahboubeh Mansouri Mehrnaz Mesdaghi Delara Babaie Hamid Ahanchian Maryam Khoshkhui Habib Soheili Mohammad Hossein Eslamian Taher Cheraghi Abbas Dabbaghzadeh Mahmoud Tavassoli Rasoul Nasiri Kalmarzi Seyed Hamidreza Mortazavi Sara Kashef Hossein Esmaeilzadeh Javad Tafaroji Abbas Khalili Fariborz Zandieh Mahnaz Sadeghi-Shabestari Sepideh Darougar Fatemeh Behmanesh Hedayat Akbari Mohammadreza Zandkarimi Farhad Abolnezhadian Abbas Fayezi Mojgan Moghtaderi Akefeh Ahmadiafshar Behzad Shakerian Vahid Sajedi Behrang Taghvaei Mojgan Safari Marzieh Heidarzadeh Babak Ghalebaghi Seyed Mohammad Fathi Behzad Darabi Saeed Bazregari Nasrin Bazargan Morteza Fallahpour Alireza Khayatzadeh Naser Javahertrash Bahram Bashardoust Mohammadali Zamani Azam Mohsenzadeh Sarehsadat Ebrahimi Samin Sharafian Ahmad Vosughimotlagh Mitra Tafakoridelbari Maziar Rahim Parisa Ashournia Anahita Razaghian Arezou Rezaei Ashraf Samavat Setareh Mamishi Hossein Ali Khazaei Javad Mohammadi Babak Negahdari Nima Parvaneh Nima Rezaei Vassilios Lougaris Silvia Giliani Alessandro Plebani Hans D Ochs Lennart Hammarström Asghar Aghamohammadi

J Allergy Clin Immunol Pract 2019 03 19;7(3):864-878.e9. Epub 2018 Sep 19.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2018.09.004DOI Listing
March 2019

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Stem Cell Res 2019 03 26;35:101393. Epub 2019 Jan 26.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101393DOI Listing
March 2019

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.

J Allergy Clin Immunol 2018 10 6;142(4):1272-1284. Epub 2018 Feb 6.

San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183020
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http://dx.doi.org/10.1016/j.jaci.2017.12.1000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078823PMC
October 2018

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Clin Immunol 2018 10 25;195:59-66. Epub 2018 Jul 25.

Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6666391PMC
October 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

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 10;8:1244. Epub 2017 Oct 10.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
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http://dx.doi.org/10.3389/fimmu.2017.01244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641412PMC
October 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 17;8:798. Epub 2017 Jul 17.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.00
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http://dx.doi.org/10.3389/fimmu.2017.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511964PMC
July 2017

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Mol Genet Metab Rep 2016 Mar 27;6:70-3. Epub 2016 Feb 27.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789388PMC
March 2016

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J Allergy Clin Immunol 2016 Feb 11;137(2):635-638.e1. Epub 2015 Sep 11.

Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.06.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747780PMC
February 2016

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

J Allergy Clin Immunol 2015 Jul 25;136(1):140-150.e7. Epub 2015 Apr 25.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494888PMC
July 2015

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

J Allergy Clin Immunol 2013 Apr 4;131(4):1136-45. Epub 2013 Feb 4.

Division of Hematology-Oncology, the Manton Center for Orphan Disease Research, Department of Laboratory Medicine, Boston Children's Hospital, and Department of Pathology, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jaci.2012.12.667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141242PMC
April 2013

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Clin Immunol 2013 Feb 7;146(2):84-9. Epub 2012 Dec 7.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.clim.2012.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742382PMC
February 2013

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children.

Virol J 2012 Nov 15;9:270. Epub 2012 Nov 15.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milano, 20122, Italy.

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http://virologyj.biomedcentral.com/articles/10.1186/1743-422
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http://dx.doi.org/10.1186/1743-422X-9-270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511245PMC
November 2012

Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.

J Clin Immunol 2011 Oct 6;31(5):778-83. Epub 2011 Jul 6.

Department of Immunology and Histocompatibility, Specific Center and Referral Center for Primary Immunodeficiencies-Paediatric Immunology, Aghia Sophia Children's Hospital, Thivon and Papadiamantopoulou Streets, 11527, Athens, Greece.

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http://dx.doi.org/10.1007/s10875-011-9564-0DOI Listing
October 2011

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

Blood 2010 Dec 11;116(26):5867-74. Epub 2010 Aug 11.

A. Nocivelli Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1182/blood-2010-03-274241DOI Listing
December 2010

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

J Allergy Clin Immunol 2008 Dec 19;122(6):1178-84. Epub 2008 Sep 19.

Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490801372
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http://dx.doi.org/10.1016/j.jaci.2008.07.036DOI Listing
December 2008

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

Curr Opin Allergy Clin Immunol 2008 Dec;8(6):534-9

Division of Immunology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/ACI.0b013e328310fe7dDOI Listing
December 2008

Immunodeficiencies due to defects of class-switch recombination.

Immunol Res 2007 ;38(1-3):68-77

Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1007/s12026-007-0023-1DOI Listing
January 2008

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.

Expert Rev Clin Immunol 2007 Sep;3(5):813-24

University of Brescia, Angelo Nocivelli Institute of Molecular Medicine, c/o Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, Italy.

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http://dx.doi.org/10.1586/1744666X.3.5.813DOI Listing
September 2007

Omenn syndrome in an infant with IL7RA gene mutation.

J Pediatr 2006 Feb;148(2):272-4

Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2005.10.004DOI Listing
February 2006

Cytokine-mediated signalling and early defects in lymphoid development.

Curr Opin Allergy Clin Immunol 2005 Dec;5(6):519-24

Angelo Nocivelli Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1097/01.all.0000191889.35516.b6DOI Listing
December 2005

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome.

Eur J Pediatr 2004 Dec;163(12):704-8

Istituto di Medicina Molecolare A. Nocivelli, Clinica Pediatrica, Università di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.

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http://link.springer.com/10.1007/s00431-004-1540-8
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http://dx.doi.org/10.1007/s00431-004-1540-8DOI Listing
December 2004

Primary immune deficiencies unravel the molecular basis of immune response.

Rev Clin Exp Hematol 2003 Mar;7(1):84-111

Department of Pediatrics and Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy.

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March 2003

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.

Eur J Pediatr 2002 Dec 23;161(12):656-9. Epub 2002 Oct 23.

Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Università di Brescia, Spedali Civili, 25123 Brescia, Italy.

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http://link.springer.com/10.1007/s00431-002-1083-9
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http://dx.doi.org/10.1007/s00431-002-1083-9DOI Listing
December 2002

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

Blood 2002 Mar;99(6):2268-9

Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy.

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http://www.bloodjournal.org/content/99/6/2268.full.pdf
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http://dx.doi.org/10.1182/blood.v99.6.2268DOI Listing
March 2002