Eleonora Gambineri

Eleonora Gambineri

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Eleonora Gambineri

Eleonora Gambineri

Publications by authors named "Eleonora Gambineri"

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43Publications

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CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface.

Clin Immunol 2019 04 8;201:15-19. Epub 2019 Feb 8.

Department of "NEUROFARBA", Section of Child's Health, University of Florence, Italy; Department of Haematology-Oncology "Anna Meyer" Children's Hospital, Florence, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15216616183047
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http://dx.doi.org/10.1016/j.clim.2019.02.003DOI Listing
April 2019

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

J Allergy Clin Immunol 2018 03 11;141(3):1036-1049.e5. Epub 2017 Dec 11.

Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.10.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050203PMC
March 2018

Novel molecular defects associated with very early-onset inflammatory bowel.

Curr Opin Allergy Clin Immunol 2017 Oct;17(5):317-324

aDepartment of 'NEUROFARBA', Section of Child's Health, University of Florence bHematology-Oncology Department, 'Anna Meyer Children's Hospital', Florence, Italy.

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http://dx.doi.org/10.1097/ACI.0000000000000393DOI Listing
October 2017

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of Gain-of-Function Mutations.

Clin Chem 2017 09 30;63(9):1539-1540. Epub 2017 Jun 30.

Adult Immunodeficiency Unit Infectious Diseases, Inflammation Center and Rare Diseases Center Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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http://dx.doi.org/10.1373/clinchem.2017.273458DOI Listing
September 2017

Timely follow-up of a GATA2 deficiency patient allows successful treatment.

J Allergy Clin Immunol 2016 11 29;138(5):1480-1483.e4. Epub 2016 Jul 29.

Department of "NEUROFARBA," Section of Child's Health, University of Florence, Florence, Italy; Hematology-Oncology Department, "Anna Meyer Children's Hospital," Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.06.004DOI Listing
November 2016

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

J Allergy Clin Immunol 2015 Jan 25;135(1):260-2. Epub 2014 Oct 25.

Institute of Cellular Medicine, University of Newcastle, Newcastle upon Tyne, United Kingdom; Department of Pediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2014.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282727PMC
January 2015

Langerhans cell histiocytosis in IPEX syndrome: possible role for natural regulatory T cells?

Pediatr Allergy Immunol 2014 Oct 16;25(6):601-3. Epub 2014 Mar 16.

Department of Pediatric Gastroenterology, Konya Training and Research Hospital, Konya, Turkey.

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http://dx.doi.org/10.1111/pai.12219DOI Listing
October 2014

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Ital J Pediatr 2014 Oct 18;40:68. Epub 2014 Oct 18.

Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy.

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http://dx.doi.org/10.1186/s13052-014-0068-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421998PMC
October 2014

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.

Eur J Hum Genet 2014 Feb 12;22(2):197-201. Epub 2013 Jun 12.

Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895642PMC
February 2014

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Am J Med Genet A 2012 Apr 14;158A(4):917-21. Epub 2012 Mar 14.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35265DOI Listing
April 2012

Genetic disorders with immune dysregulation.

Cell Mol Life Sci 2012 Jan 9;69(1):49-58. Epub 2011 Oct 9.

Department of Sciences for Woman and Child's Health, Anna Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://link.springer.com/content/pdf/10.1007/s00018-011-0838
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http://link.springer.com/10.1007/s00018-011-0838-8
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http://dx.doi.org/10.1007/s00018-011-0838-8DOI Listing
January 2012

New frontiers in primary immunodeficiency disorders: immunology and beyond….

Cell Mol Life Sci 2012 Jan 19;69(1):1-5. Epub 2011 Oct 19.

Department of Sciences for Woman and Child's Health, Anna Meyer Children's Hospital, Haematology-Oncology Department, BMT Unit, University of Florence, Viale Gaetano Pieraccini, 24, 50139 Florence, Italy.

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http://link.springer.com/content/pdf/10.1007/s00018-011-0833
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http://link.springer.com/10.1007/s00018-011-0833-0
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http://dx.doi.org/10.1007/s00018-011-0833-0DOI Listing
January 2012

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

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.

J Allergy Clin Immunol 2010 Dec 30;126(6):1242-51. Epub 2010 Oct 30.

Department of Surgery, University of British Columbia, and Immunity and Infection Research Centre, Vancouver Coastal Health Research Institute, Vancouver, British Columbia, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S009167491001342
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http://dx.doi.org/10.1016/j.jaci.2010.09.001DOI Listing
December 2010

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.

J Autoimmun 2010 Nov 22;35(3):265-8. Epub 2010 Jul 22.

Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA 95616, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S089684111000072
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http://dx.doi.org/10.1016/j.jaut.2010.06.017DOI Listing
November 2010

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

Eur J Endocrinol 2010 Aug 1;163(2):329-37. Epub 2010 Jun 1.

Department of Paediatrics, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1530/EJE-10-0167DOI Listing
August 2010

Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy.

Clin Exp Rheumatol 2010 Jan-Feb;28(1 Suppl 57):93-7

Department of Paediatrics, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.

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July 2010

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Clin Endocrinol (Oxf) 2010 Jun 26;72(6):839-44. Epub 2009 Oct 26.

Paediatric Endocrinology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03736.xDOI Listing
June 2010

Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.

J Rheumatol 2009 Sep 31;36(9):2017-24. Epub 2009 Jul 31.

Department of Paediatrics, Rheumatology and Immunology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.3899/jrheum.090066DOI Listing
September 2009

Immunodeficiencies with autoimmune consequences.

Adv Immunol 2006 ;89:321-70

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

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http://dx.doi.org/10.1016/S0065-2776(05)89008-XDOI Listing
April 2009

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

Immunol Res 2007 ;38(1-3):112-21

Division of Immunology, Infectious Diseases, Rheumatology, Children's Hospital and University of Washington, 307 Westlake Ave. North, Suite 300 (CW), Seattle, WA 98109, USA.

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http://dx.doi.org/10.1007/s12026-007-0022-2DOI Listing
January 2008

Role of regulatory T cells and FOXP3 in human diseases.

J Allergy Clin Immunol 2007 Aug;120(2):227-35; quiz 236-7

San Raffaele Telethon Institute for Gene Therapy, Milano, Italy.

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http://dx.doi.org/10.1016/j.jaci.2007.06.023DOI Listing
August 2007

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.

Gastroenterology 2007 May 23;132(5):1705-17. Epub 2007 Feb 23.

University of Washington & Children's Hospital, Department of Pediatrics, Division of Immunology, Rheumatology, & Infectious Diseases, Seattle, Washington, USA.

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http://dx.doi.org/10.1053/j.gastro.2007.02.044DOI Listing
May 2007

Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome).

Vaccine 2005 Feb;23(14):1668-71

Department of Pediatrics, University of Florence, Pediatric Hospital A. Meyer, Via Luca Giordano, 13, 50132 Firenze, Italy.

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http://dx.doi.org/10.1016/j.vaccine.2004.10.005DOI Listing
February 2005

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.

Curr Opin Rheumatol 2003 Jul;15(4):430-5

Department of Pediatrics, Division of Immunology, Rheumatology and Infectious Diseases, University of Washington, Seattle, Washington, USA, and Department of Pediatrics, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/00002281-200307000-00010DOI Listing
July 2003