Eleonora GAMBINERI

Eleonora GAMBINERI

Eleonora GAMBINERI

Eleonora GAMBINERI

Personale

Recapiti

Orario di ricevimento

Italiano

Curriculum

Pubblicazioni

Insegnamenti

English

Curriculum

Ruolo attuale:: Professore Associato
SSD:: MEDS-20/A - Pediatria generale e specialistica
Afferenza organizzativa:: Dipartimento di Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)

Recapiti

	0552758189 - 0555662738
	eleonora.gambineri(AT)unifi.it

Ulteriori Recapiti

	Ufficio MHC
	055 5662983

Curriculum

INFORMAZIONI PERSONALI	ELEONORA GAMBINERI

	eleonora.gambineri@unifi.it
	Skype ID: elegambis
	Sesso F \| Data di nascita 07/04/1974 \| Nazionalità Italiana

SETTORE PROFESSIONALE Pediatria, Immunologia ed Ematologia Pediatrica

BIOMETRICA

H Index ufficiale: 32
Citationi totali: 4,919
Numero medio di citazioni per anno (2014-2024): 340
Scopus author id: 7801396916
ORCID author id: 0000-0002-4676-6541
RESEARCH ID author code: J-8747-2016
Pubblicazioni: https://www.ncbi.nlm.nih.gov/pubmed/?term=gambineri+e

POSIZIONE ATTUALE

2010 ad oggi: Attività clinica presso l’Unità di Trapianto di Midollo Osseo Centro di Eccellenza di Oncologia ed Ematologia Pediatrica, SOC “Oncologia, Ematologia e Trapianto di Cellule Staminali”, Azienda Ospedaliero Universitaria Meyer, Firenze.
2018 ad oggi: Professore Associato in Pediatria (SSD MED/20A - ex MED/38)>>presso l’Università degli Studi di Firenze.
2021 ad oggi: Responsabile della SS Immunologia Oncoematologica, Centro di Eccellenza di Oncologia ed Ematologia Pediatrica, SOC “Oncologia, Ematologia e Trapianto di Cellule Staminali”, Azienda Ospedaliero Universitaria Meyer, Firenze.
2021 ad oggi: Coordinatore Ricerca IBMDR per il programma trapianti pediatrici, Ospedale Pediatrico Meyer, IRCCS, Firenze, Italia

ESPERIENZA PROFESSIONALE

1999-2001: Frequentatore volontario. Laboratorio di Immunologia A.O.U. Meyer”: partecipazione a progetti di ricerca coordinati dalla Prof. Chiara Azzari e dal Prof. Alberto Vierucci. Attività clinica presso il reparto e il Day-Hospital della Clinica Pediatrica III.
2001-2006: Formazione Specialistica in Pediatria, Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università degli Studi di Firenze
2003-2004: Ricercatore a tempo determinato presso l’Università degli Studi di Firenze, Dipartimento di Pediatria
2003-2009: Attività clinica presso il Servizio di Immunologia-A.O.U. Meyer, Firenze
Aprile-Luglio 2004: Soggiorno a scopi collaborativi presso il laboratorio del San Raffaele Telethon Institute for Gene therapy (HSR-TIGET), diretto dalla Prof. Maria Grazia Roncarolo
Gennaio 2005: Soggiorno a scopi collaborativi presso la Clinica Pediatrica e l’Unità di Trapianto Midollo Osseo, Università degli Studi di Brescia, diretta dal Prof. Luigi Notarangelo
2005-2018: Ricercatore a tempo indeterminato presso l’Università degli Studi di Firenze, Dipartimento di Pediatria/NEUROFARBA
Gennaio 2013-Dicembre 2014: partecipa al coordinamento delle Malattie Rare nella A.O.U. Meyer, Firenze.
Settembre 2018: Vincitrice del concorso dell’Università di Firenze per la copertura di un posto di professore associato, SC 06/G1, SSD MED/38

ESPERIENZA

PROFESSIONALE ALL’ESTERO

2001-2002: Visiting researcher presso Department of Pediatrics, Division of Immunology, Infectious Diseases and Rheumatology, University of Washington, School of Medicine, Seattle, Washington, USA. Direttore: Prof. Hans D. Ochs
2002-2003: Fellowship, Pediatric Immunology presso Division of Immunology, Infectious Diseases and Rheumatology, University of Washington, School of Medicine, Seattle, Washington, USA. Direttore: Prof. Hans D. Ochs
Luglio-Agosto 2005: Soggiorno a scopi collaborativi presso il laboratorio del Prof. Hans D. Ochs, Regional Children’s Hospital, University of Washington, School of Medicine, Seattle, Washington, USA
Agosto 2008: Soggiorno a scopi collaborativi presso il laboratorio del Prof. Hans D. Ochs/ Troy R. Torgerson, Seattle Children’s Hospital, University of Washington, Seattle, Washington, USA
Novembre 2009-Settembre 2010: Clinical attachment presso Pediatric Immunology and BMT Unit, Newcastle General Hospital & University of Newcastle, Newcastle upon Tyne, UK. Direttore: Prof. Andrew J. Cant
07/2010: Contratto come "Honorary Observer" al Great Ormond Street Children's Hospital (Dr. Paul Veys, Unità BMT), Londra, UK
Dicembre 2010-2012: Visiting professorship a scopi collaborativi presso la Newcastle University, Newcastle upon Tyne, UK.
Febbraio-Marzo 2017: Soggiorno a scopi collaborativi presso il laboratorio Prof. Hans D. Ochs/ Troy R. Torgerson, Seattle Children’s Hospital, University of Washington, Seattle, Washington, USA

ISTRUZIONE E FORMAZIONE

1993: Diploma di Maturità Classica presso il Liceo Ginnasio “Dante” di Firenze
1999: Laurea in Medicina e Chirurgia con il massimo dei voti e la lode (110 e lode) presso l’Università degli Studi di Firenze
2000: Diploma di abilitazione all’esercizio della professione medica
Settembre 2003: ammessa alla European Society for Immunodeficiencies (ESID) Summer School in Primary Immunodeficiencies (Algavre, Portogallo)
2006: Diploma di Specializzazione in Pediatria con il massimo di voti e la lode (70 e lode) presso la Facoltà di Medicina e Chirurgia, Università degli Studi di Firenze
Novembre 2007: ammessa alla Clinical Immunology Society (CIS) Summer School in Primary Immunodeficiencies (Miami, USA)
2006-2008: Master di II livello in Allergologia ed Immunologia Pediatrica presso la Facoltà di Medicina, Università degli Studi di Roma Tor Vergata, Roma
2017: Abilitazione Scientifica Nazionale: idonea, professore di seconda fascia, settore concorsuale 06/G1, Pediatria Generale e Specialistica

CAPACITA’ E COMPETENZE PERSONALI

Lingua madre	Italiano

Altre lingue	COMPRENSIONE		PARLATO		PRODUZIONE SCRITTA
	Ascolto	Lettura	Interazione	Produzione orale
Inglese	C2	C2	C2	C2	C1
	2000-2001: corso avanzato di inglese presso il Wall Street Institute di Firenze 2001-2002: corso semestrale di inglese avanzato presso la University of Washington, Seattle, USA
	Livelli: A1/A2: Utente base - B1/B2: Utente intermedio - C1/C2: Utente avanzato Quadro Comune Europeo di Riferimento delle Lingue

Competenze comunicative

Possiedo buone competenze comunicative acquisite durante la mia esperienza di relatrice a congressi/simposi/corsi didattici sia nazionali che internazionali

Competenze organizzative e gestionali

Competenze informatiche

Dal 2006 al 2024, in quando membro del consiglio direttivo dell’European Society for Immunodeficiencies, ho partecipato all’organizzazione di congressi internazionali e corsi didattici
Dal 2004 coordino un team di laboratorio di ricerca (attualmente 2 assegnisti di ricerca e 1 dottorando) presso il Dipartimento NEUROFARBA, Università degli Studi di Firenze
Ho una valida rete di collaborazioni internazionali e nazionali nell’ambito sia scientifico che clinico dell’immunologia pediatrica

Ottima conoscenza ed utilizzo sia della piattaforma Windows che Mac, Microsoft Word, Power Point, Excel, posta elettronica, navigazione internet, SPSS, STATA, Open AI,

Area di interesse

Il mio percorso formativo e il mio principale interesse di ricerca si sono sempre concentrati sullo studio delle immunodeficienze primitive (PID), con particolare attenzione ai disturbi da disregolazione immunitaria. Parte della mia formazione si è svolta all'estero, presso centri di eccellenza (USA e UK), dove ho avuto modo di studiare sia gli aspetti clinici che molecolari delle PID, oltre alle opzioni terapeutiche (ad esempio, BMT/terapie cellulari). Questo mi ha aperto enormi possibilità di collaborazioni di ricerca fruttuose, ulteriormente arricchite dal mio impegno pluriennale nelle attività della European Society for Immunodeficiencies (ESID) dal 2006. La mia attività clinica e di ricerca degli ultimi 20 anni si è principalmente concentrata sulle PID, sulle malattie autoimmuni e sulla predisposizione al cancro. Ho partecipato a numerosi congressi internazionali e nazionali, presentando i miei dati di ricerca (tramite poster e comunicazioni orali) e come relatore invitato. Sono autore di 79 articoli pubblicati su riviste scientifiche peer-review(https://www.ncbi.nlm.nih.gov/pubmed/?term=gambineri+e ) e di 8 capitoli di libri in lingua inglese, oltre a diverse pubblicazioni su riviste nazionali. Inoltre, ho contribuito allo sviluppo di linee guida internazionali per la gestione immunologica della Sindrome da Delezione del Cromosoma 22q11.2 e di altri difetti dello sviluppo timico (DOI: 10.1007/s10875-024-01655-3). Attualmente, faccio parte di un comitato di esperti ESID che sta elaborando linee guida sulla vaccinazione per pazienti immunocompromessi (pubblicazione in corso).

Obiettivi

Altre competenze

Ricerca traslazionale sulle malattie da Immunodeficienza primitiva con particolare focus sui disturbi della tolleranza immunologica e sulla ricostituzione immune post-trapianto, attraverso studi molecolari e funzionali.
Esperienza clinica in immunologia/ematologia pediatrica ed in ambito di trapianto di cellule staminali emopoietiche e di terapie cellulari.
Definire il ruolo del sistema immunitario nello sviluppo e nella progressione dei tumori pediatrici.
Esplorare i meccanismi di ricostituzione immunitaria dopo il trapianto allogenico di cellule staminali ematopoietiche.
Incentivare e solidificare le collaborazioni internazionali.

1994-1998: Giocatrice di pallanuoto femminile (squadra Rari Nantes Florentia, serie C e B)

2014 - oggi: Maratoneta e mezzo maratoneta amatoriale (gare internazionali e nazionali); Abbott World Marathon Majors: Six Stars Finisher (2015-2024)

2024 - oggi: Competizioni di nuoto nella categoria Masters

ULTERIORI INFORMAZIONI

Fondi di Ricerca

Riconoscimenti e premi

Attività Didattica

Supervisione di Studenti Laureati e Ricercatori Post-Dottorato

Organizzazione di Meeting Scientifici

Attività di revisore per riviste scientifiche internazionali e grants

Attività editoriale

Referenze

Organizzazioni Professionali

12/2004 e 07/2007: Telethon Research Grant: “Dalla mutazione di FOXP3 all'IPEX: genotipo-fenotipo, meccanismi patogenetici e opzioni terapeutiche” (2004-2006) e (2007-2010).
04/2005: Finanziamento MIUR-Cofin 2005 (Ministero dell'Istruzione, dell'Università e della Ricerca): “Approcci innovativi alla terapia genica per malattie genetiche neurologiche e immunologiche” (2006-2008).
12/2008: Finanziamento del Ministero della Salute per Giovani Ricercatori: “HLA-G: un nuovo marker tollerogenico per l'induzione della tolleranza mediata da cellule T regolatorie” (2008-2010).
03/2013: Jeffrey Modell Foundation Specific Defect Research Grant: “Ruolo del sistema immunitario intestinale nel controllo delle disfunzioni immunitarie: GvHD intestinale acuta e sindromi IPEX/IPEX-like come modelli” (2013-2015).
12/2013: Finanziamento del Ministero della Salute per Giovani Ricercatori: “Ruolo dell'ambiente intestinale nella ricostituzione immunitaria dopo trapianto di cellule staminali ematopoietiche (HSCT)” (GR-2011-02349759) (2014-2017).
09/2014: Finanziamento di Ricerca 2014 Ente Cassa di Risparmio di Firenze: “Ruolo del sistema immunitario intestinale nel controllo delle immunodisregolazioni: malattia del trapianto verso l'ospite, sindromi IPEX e ‘IPEX-like’ come modelli di studio” (2014-2015).
12/2017: Finanziamento MIUR-Cofin 2016 (Ministero dell'Istruzione, dell'Università e della Ricerca): “Dalle malattie allergiche e autoimmuni ai disturbi immuno-deregolati: caratterizzazione clinica, immunologica e genetica e proposta di protocolli diagnostico-terapeutici” (2018-2021).
01/2018: Jeffrey Modell Foundation Specific Defect Research Grant: “Citopenie autoimmuni come ‘nuovo segno di allarme’ di immunodeficienze primitive” (2018-2020).
09/2018 e 09/2020: Finanziamento di Ricerca 2018 Ente Cassa di Risparmio di Firenze: “Citopenie autoimmuni come segno di immunodeficienza primitiva: approccio immunologico e molecolare per ottimizzare il percorso diagnostico-terapeutico” (2018-2019; 2020-2021).
01/2022: Jeffrey Modell Foundation Specific Defect Research Grant: “Linfomi non-Hodgkin pediatrici come nuovo ‘indicatore’ di immunodeficienze primitive: focalizzarsi sul cancro associato a difetti immunitari” (2022-2024).
10/2023: Finanziamento PRIN 2022 (Ministero dell’Università e della Ricerca) (2022W839, anni 2023-2025): “Difetti immunitari congeniti correlati a STAT3: meccanismi patogenetici e potenziali bersagli terapeutici”.
07/2023: Fondazione Telethon-Cariplo Grant (GJC22072, anni 2023-2025): “Ruolo di ZNF341 nelle immunodeficienze congenite associate a iper IgE, STAT3- e STAT1-gain of function”.
12/2023: European Joint Program on Rare Disease 2023 (coordinatore di uno studio multicentrico internazionale 2024-2027): “ The interplay between Inborn Error of Immunity and blood disorders: unravelling immune defects behind common haematological diseases”; IEI-HAEM Consortium (Coordinatore: E. Gambineri, Italia; Partner: Frédéric Rieux-Laucat, Francia, Pere Soler Palacín, Spagna, Elie Haddad e Vincent-Philippe Lavallée, Canada, Maria Teresa Voso, Italia, Qiang Pan-Hammarström, Svezia).

Gennaio 2004: eletta responsabile del registro europeo ESID per la sindrome IPEX con il ruolo di “head of the steering committee”
Dicembre 2005: eletta co-responsabile del Protocollo di Studio IPEX all’interno del Comitato Strategico di Studio-AIEOP sulle Immunodeficienze primitive.
Giugno 2006: invitata a partecipare alla European Primary Immunodeficiencies Consensus Conference, Frankfurt, Germany, 19-20 giugno 2006
2006-2018: Membro del Consiglio Direttivo di ESID come Responsabile dell’ESID Juniors Working Party 2006-2008, Tesoriere di ESID (2008-2014), Responsabile dell’Educational Working Party (2014-2018).
2009: Nominato guest-editor per una revisione multi-autore su "Immunodeficienze Primitive per la rivista *Cellular and Molecular Life Sciences (CMLS)*.
1 dicembre 2011: Testimonial come ricercatore Telethon per l'evento presso il Salone dei Cinquecento a Palazzo Vecchio, Firenze in occasione della Maratona Telethon 2011
3 dicembre 2011: Testimonial come ricercatore Telethon per l'evento presso il campo di calcio della società Maliseti di Prato tra “Assessori Comune di Prato e Medici ospedalieri” in occasione della Maratona Telethon 2011
2012: Vincitore del “Premio Giovani Ricercatori 2012” dell’Ospedale Pediatrico Anna Meyer.
Luglio 2013-2015: membro della Segreteria Scientifica del Comitato Etico Pediatrico Regionale (Regione Toscana)
2002-2019: Vincitore di 9 Travel Grants per partecipare a congressi internazionali e Summer Schools (ESID Summer School, FOCIS, CIS Primary Immune Disorders Consortium Conference, AAAAI, CIS Annual Meeting Primary Immune Deficiency Diseases, ecc.).
2009-2011-2013-2016-2018 Invito a partecipare come delegato alla Jeffrey Modell Foundation Immunology Conferences (2009-Dublin, 2011-New York, USA, 2013-Berlin, 2016-Hollywood, USA, 2018-New York, USA)
2008-2025: Relatore invitato a numerosi congressi nazionali e principalmente internazionali su Immunologia Pediatrica ed Ematologia (media di 2-3/anno negli ultimi 10 anni).
Gennaio 2015: eletta da Baxalta/Shire membro della PID management steering committee per sviluppare e moderare casi clinici all’interno del workshop interattivo “Patient in Practice” all’IPIC meeting 2015 e all’ ESID meeting 2016
Gennaio 2018 e 2024: Eletta membro del Consiglio dei Sanitari, A.O.U. Meyer, IRCCS, Firenze
2019 - attualmente: Membro del sottocomitato sull’Immunoterapia di SIOPEN.
2020-2024: Segretario di ESID (European Society for Immunodeficiencies).
2022-2024: Membro esperto (rappresentante ESID) di Scree4Rare.
11/2023: Partecipazione come esperto al meeting del Gruppo Ad-hoc di Esperti (AHEG) su Joenja (leniolisib) organizzato dal Comitato per i Medicinali per Uso Umano (CHMP) dell'Agenzia Europea per i Medicinali (EMA).
2023 - attualmente: Membro del sottocomitato per l’Educazione del gruppo di lavoro speciale (SWG) dell’EHA su Ematologia Pediatrica.
03/2024 - attualmente: Membro del Comitato Clinico di Esperti per l’IPEX (progetto IRIS RHU per lo sviluppo della terapia genica).

Dal 2005 ad oggi: Docente del corso di laurea in Medicina e Chirurgia, Infermieristica, Fisioterapia, Scienze della Formazione Primaria e scuola di specializzazione in Pediatria dell'Università di Firenze.
Dal 2006 al 2022: Membro del Comitato Educativo dell'ESID e docente delle ESID Summer Schools.
2020 e 2024: Docente dell'International Alliance of PID Societies (IAPIDS) Advance Course sulle Immunodeficienze Primitive (Febbraio 2020 e 2024).

Dal 2005 al 2024, ho supervisionato circa 42 studenti laureati e ricercatori post-dottorato, supportandoli nello sviluppo accademico, nella formazione alla ricerca e nella progressione della carriera nel campo della pediatria e dell’immunologia pediatrica.

2010: Presidente del Meeting per l'ESID Junior Educational Workshop (11-12 gennaio 2010, Firenze, Italia).
2012: Presidente del Meeting per il 15° Congresso Biennale dell'ESID (3-6 ottobre 2012, Firenze, Italia).
2008-2018 e 2020-2025: Membro del Comitato Scientifico per l'organizzazione dei Congressi annuali e biennali dell'ESID (2008: 's-Hertogenbosch, Paesi Bassi, 16-19 ottobre; 2010: Istanbul, Turchia, 6-9 ottobre; 2012: Firenze, Italia, 3-6 ottobre; 2014: Praga, Repubblica Ceca, 29 ottobre – 1 novembre; 2016: Barcellona, Spagna, 21-24 settembre; 2017: Edimburgo, Regno Unito, 11-14 settembre; 2018: Lisbona, Portogallo, 24-27 ottobre; 2021: Online, 27-29 settembre; 2022: Göteborg, Svezia, 12-15 ottobre; 2024: Marsiglia, Francia, 16-19 ottobre; 2025: Simposio mirato ESID-EHA-SIOPE, 18-20 novembre).
2025: Presidente del Meeting per il Primo Congresso Internazionale del Consorzio IEI-Haem (24 gennaio 2025, Firenze, Italia).

Revisore per riviste scientifiche con peer review:

- Pediatric Research (2009)

- Pediatric Allergy and Immunology (2009)

- The Pediatric Infectious Disease Journal (2010)

- Journal of Allergy and Clinical Immunology (dal 2013 ad oggi)

- Clinical Immunology (2014)

- Journal of Clinical Immunology (dal 2014 ad oggi)

- Frontiers Immunology and Paediatrics (dal 2015 ad oggi)

- Frontiers in Paediatrics, sezione Paediatric Haematology and Immunology (dal 2016 ad oggi)

- Expert Review of Clinical Immunology (2016)

- Paediatric Allergy, Immunology, and Pulmonology (2016)

- Journal of Clinical Immunology (2017)

- Frontiers in Immunology (dal 2017 ad oggi)

Valutatore scientifico per finanziamenti di ricerca:

- Research Council of K.U.Leuven, proposta di ricerca del professor Xavier Bossuyt "Regolazione della risposta immunitaria allo Streptococcus pneumoniae incapsulato" (2012)

- Università di Modena e Reggio Emilia, proposta di ricerca del professor Carlo Salvarani "Metabolomica e analisi immunologica per rilevare l'interazione tra vie metaboliche e infiammatorie tra psoriasi e artrite psoriasica", Bando FAR 2021

Membro del comitato di revisione HDR per la tesi di dottorato di Marianna Parlato, Università di Parigi, 23 novembre 2021

Dal 2009 ad oggi: Pediatric Reports, membro del comitato editoriale

Dal 2022 ad oggi: Associate Editor Frontiers in Pediatrics (Pediatric Immunology)

05-07/2004: Collaborazione nel laboratorio della Professoressa Maria Grazia Roncarolo, San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Milano, Italia.
01/2005: Collaborazione nella clinica del Professor Luigi D. Notarangelo, Dipartimento di Pediatria, Università di Brescia, Brescia, Italia.
06-09/2005; 08/2008; 02-03/2017: Collaborazione nel laboratorio del Dr. Troy R. Torgerson/Professor Hans D. Ochs, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA.
01/2013-12/2014: Collaborazione con il Dipartimento di Medicina Fetale e Neonatale: Malattie Rare, Ospedale Pediatrico Universitario “Anna Meyer”, Firenze, Italia.
Collaboratori principali:

▪ Dr. Troy R. Torgerson/Professor Hans D. Ochs, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA.

▪ Prof. Raffaele Badolato, Università di Brescia, Brescia, Italia.

▪ Dr. Alberto Tommasini, IRCCS Burlo Garofalo, Trieste, Italia.

▪ Prof. Isabelle Meyts, Università di Leuven, Belgio.

▪ Prof. Stephan Ehl, Università di Freiburg, Center for Chronic Immunodeficiency – CCI.

▪ Prof. Andrew Gennery/Prof. Sophie Hambleton, Università di Newcastle upon Tyne, Regno Unito.

▪ Sergio D. Rosenzweig, NIH, USA.

▪ Kate Sullivan, Chief of Allergy Immunology, CHOP, USA.

▪ Jolan Walter, USF, Johns Hopkins All Children’s Hospital, St. Petersburg, USA.

▪ Prof. Franco Locatelli, Ospedale Pediatrico Bambino Gesù IRCSS, Roma, Italia.

▪ Prof. Frederic Rieux-Laucat, Imagine Institute, Parigi, Francia.

▪ Prof. Père Soler Palacín, Vall d’Hebron Institut de Recerca, Barcellona, Spagna.

▪ Prof. Qiang Pan-Hammarström, Karolinska Institutet, Stoccolma, Svezia.

▪ Prof. Elie Haddad, CHU Sainte-Justine, Università di Montreal, Montreal, Canada.

▪ Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP), Membro

▪ Clinical Immunology Society (CIS), Membro

▪ European Haematology Association (EHA), Membro

▪ European Society for Immunodeficiencies (ESID), Membro

▪ Board Member (2006-2008) as head of the ESID Junior WP

▪ Board Member (2008-2014) as ESID Treasurer

▪ Board Member (2014-2018) as head of the ESID Educational WP

▪ Board Member (2020-2024) as ESID Secretary

DATI PERSONALI

Io sottoscritta, professoressa Eleonora Gambineri, nata a Firenze il 07/04/1974, residente a Firenze in via Trieste, 50 consapevole delle responsabilità e delle sanzioni penali stabilite dalla legge per le false attestazioni e le mendaci dichiarazioni (art. 76 del D.P.R. 445/2000) DICHIARA sotto la propria responsabilità che le informazioni contenute nel presente curriculum vitae corrispondono a verità

Autorizzo il trattamento dei miei dati personali ai sensi del Decreto Legislativo 30 giugno 2003, n. 196 "Codice in materia di protezione dei dati personali”.

Pubblicazioni

Legenda

Contributo su rivista |

Articolo su libro |

Libro |

Contributo in atti di convegno (proceeding) |

Brevetto |

Curatela | Altro

Altro |

Tesi di Dottorato

Consonni, Filippo; Del Medico, Giulia; Stagi, Stefano; Gambineri, Eleonora (2024). Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation. JOURNAL OF CLINICAL IMMUNOLOGY, vol. 44, pp. 0-0, ISSN:1573-2592 DOI

Bohlen, Jonathan; Bagarić, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; Aguilar de la Red, Yurena; Rice, Gillian I; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cécile; Masson, Cécile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jérémie; Neehus, Anna-Lena; Erazo-Borrás, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudée, Camille; Lainé, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S; Puel, Anne; Tangye, Stuart G; André, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ying; Béziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlène; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J; Landegren, Nils; Masetti, Riccardo; Huang, Danny T; Casanova, Jean-Laurent; Bustamante, Jacinta (2024). Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation. THE JOURNAL OF CLINICAL INVESTIGATION, vol. 134, pp. 0-0, ISSN:1558-8238 DOI

Consonni, Filippo; Ciulli, Alice; Cuzzubbo, Daniela; Frenos, Stefano; Sanvito, Maria Chiara; Tondo, Annalisa; Tintori, Veronica; Gambineri, Eleonora (2024). Refractory Thrombocytopenia is the Earliest Diagnostic Criterion for Sinusoidal Obstruction Syndrome in Children. JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY, vol. 46, pp. 0-0, ISSN:1536-3678 DOI

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Gambineri E.; Mannurita S.C.; Hagin D.; Vignoli M.; Anover-Sombke S.; DeBoer S.; Segundo G.R.S.; Allenspach E.J.; Favre C.; Ochs H.D.; Torgerson T.R. (2018). Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. FRONTIERS IN IMMUNOLOGY, vol. 9, pp. 2411-2428, ISSN:1664-3224 DOI Accesso ONLINE all'editore

Tangye, Stuart G.; Forbes, Lisa R.; Leiding, Jennifer; Preece, Kahn; Kumar, Ashish R.; Gambineri, Eleonora; Milner, Joshua D.; Cooper, Megan A.; Seppã¤nen, Mikko (2017). Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations. CLINICAL CHEMISTRY, vol. 63, pp. 1539-1540, ISSN:0009-9147 DOI Accesso ONLINE all'editore

Ciullini Mannurita, Sara; Gambineri, Eleonora (2017). Novel molecular defects associated with very early-onset inflammatory bowel. CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, vol. 17, pp. 317-324, ISSN:1528-4050 DOI Accesso ONLINE all'editore

Ciullini Mannurita, Sara; Vignoli, Marina; Colarusso, Gloria; Tucci, Fabio; Veltroni, Marinella; Frenos, Stefano; Tintori, Veronica; Aricò, Maurizio; Bigley, Venetia; Collin, Matthew; Favre, Claudio; Gambineri, Eleonora (2016). Timely follow-up of a GATA2 deficiency patient allows successful treatment. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 138, pp. 1480-1483.e4-1483.e4, ISSN:0091-6749 DOI

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Völkl, Simon; Rensing-Ehl, Anne; Allgäuer, Andrea; Schreiner, Elisabeth; Lorenz, Myriam Ricarda; Rohr, Jan; Klemann, Christian; Fuchs, Ilka; Schuster, Volker; von Bueren, André O; Naumann-Bartsch, Nora; Gambineri, Eleonora; Siepermann, Kathrin; Kobbe, Robin; Nathrath, Michaela; Arkwright, Peter D; Miano, Maurizio; Stachel, Klaus-Daniel; Metzler, Markus; Schwarz, Klaus; Kremer, Anita N; Speckmann, Carsten; Ehl, Stephan; Mackensen, Andreas (2016). Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. BLOOD, vol. 128, pp. 227-38-238, ISSN:0006-4971 DOI

Gambineri, E; Ciullini Mannurita, S; Robertson, H; Vignoli, M; Haugk, B; Lionetti, P; Hambleton, S; Barge, D; Gennery, Ar; Slatter, M; Nademi, Z; Flood, Tj; Jackson, A; Abinun, M; Cant, Aj (2015). Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 135, pp. 260-262, ISSN:0091-6749 DOI

Rezaei, Nima; de Vries, Esther; Gambineri, Eleonora; Haddad, Elie (2014). Common Presentations and Diagnostic Approaches. In: Rezaei Nima, de Vries Esther, Gambineri Eleonora, Haddad Ellie. Stiehm's Immune Deficiencies, pp. 3-59 Elsevier Inc., ISBN:9780124058606. DOI Accesso ONLINE all'editore

Zama, Daniele; Cocchi, Ilaria; Masetti, Riccardo; Specchia, Fernando; Alvisi, Patrizia; Gambineri, Eleonora; Lima, Mario; Pession, Andrea (2014). Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea. THE ITALIAN JOURNAL OF PEDIATRICS, vol. 40, pp. 68-75, ISSN:1720-8424 DOI Accesso ONLINE all'editore

Routes J;Abinun M;Al-Herz W;Bustamante J;Condino-Neto A;De La Morena MT;Etzioni A;Gambineri E;Haddad E;Kobrynski L;Le Deist F;Nonoyama S;Oliveira JB;Perez E;Picard C;Rezaei N;Sleasman J;Sullivan KE;Torgerson T (2014). ICON: The Early Diagnosis of Congenital Immunodeficiencies.. JOURNAL OF CLINICAL IMMUNOLOGY, pp. 1-27, ISSN:0271-9142 DOI

Nademi Z;Slatter M;Gambineri E;Mannurita SC;Barge D;Hodges S;Bunn S;Thomas J;Haugk B;Hambleton S;Flood T;Cant A;Abinun M;Gennery A (2014). Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.. BONE MARROW TRANSPLANTATION, vol. 49, pp. 310-312, ISSN:0268-3369 DOI

Ersin Sayar;Dilara F. Kocacik Uygun;Ali Islek;Esra Hazar-Sayar;Bahar Akkaya;Marina Vignoli;Eleonora Gambineri;Mehmet Akif Yesilipek;Reha Artan (2014). Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells?. PEDIATRIC ALLERGY AND IMMUNOLOGY, pp. n/a-n/a, ISSN:0905-6157 DOI

Dickinson RE;Milne P;Jardine L;Zandi S;Swierczek SI;McGovern N;Cookson S;Ferozepurwalla Z;Langridge A;Pagan S;Gennery A;Heiskanen-Kosma T;Hämäläinen S;Seppänen M;Helbert M;Tholouli E;Gambineri E;Reykdal S;Gottfreðsson M;Thaventhiran JE;Morris E;Hirschfield G;Richter AG;Jolles S;Bacon CM;Hambleton S;Haniffa M;Bryceson Y;Allen C;Prchal JT;Dick JE;Bigley V;Collin M (2014). The evolution of cellular deficiency in GATA2 mutation.. BLOOD, vol. 123, pp. 863-874, ISSN:0006-4971 DOI

Lorenzo Loffredo;Roberto Carnevale;Valerio Sanguigni;Alessandro Plebani;Paolo Rossi;Claudio Pignata;Domenico De Mattia;Andrea Finocchi;Baldassarre Martire;Maria Cristina Pietrogrande;Silvana Martino;Eleonora Gambineri;Giuliana Giardino;Anna Rosa Soresina;Francesco Martino;Pasquale Pignatelli;Francesco Violi (2013). Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?. ANTIOXIDANTS & REDOX SIGNALING, vol. 18, pp. 1491-1496, ISSN:1523-0864 DOI

Kevin Goudy;Didem Aydin;Federica Barzaghi;Eleonora Gambineri;Marina Vignoli;Sara Ciullini Mannurita;Claudio Doglioni;Maurilio Ponzoni;Maria Pia Cicalese;Andrea Assanelli;Alberto Tommasini;Immacolata Brigida;Rosa Maria Dellepiane;Silvana Martino;Sven Olek;Alessandro Aiuti;Fabio Ciceri;Maria Grazia Roncarolo;Rosa Bacchetta (2013). Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. CLINICAL IMMUNOLOGY, vol. 146, pp. 248-261, ISSN:1521-6616 DOI

Sara Ciullini Mannurita;Marina Vignoli;Lucia Bianchi;Anuela Kondi;Valeria Gerloni;Luciana Breda;Rebecca ten Cate;Maria Alessio;Angelo Ravelli;Fernanda Falcini;Eleonora Gambineri (2013). CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. EUROPEAN JOURNAL OF HUMAN GENETICS, pp. xx-xx, ISSN:1018-4813 DOI

Moschese V;Martire B;Soresina A;Chini L;Graziani S;Monteferrario E;Bacchetta R;Cancrini C;Fiorilli M;Gambineri E;Pession A;Pignata C;Quinti I;Rondelli R;Rossi P;Ugazio AG;Plebani A;Pietrogrande MC (2013). Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature.. JOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS, vol. 27, pp. 935-946, ISSN:0393-974X

Gulbu Uzel;Elizabeth P. Sampaio;Monica G. Lawrence;Amy P. Hsu;Mary Hackett;Morna J. Dorsey;Richard J. Noel;James W. Verbsky;Alexandra F. Freeman;Erin Janssen;Francisco A. Bonilla;Joseph Pechacek;Prabha Chandrasekaran;Sarah K. Browne;Anahita Agharahimi;Ahmed M. Gharib;Sara C. Mannurita;Jae Joon Yim;Eleonora Gambineri;Troy Torgerson;Dat Q. Tran;Joshua D. Milner;Steven M. Holland (2013). Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 131, pp. 1611-1623.e3, ISSN:0091-6749 DOI

Gambineri E ; Colarusso G ; Mannurita Ciullini S ; Frenos S ; Sanvito C ; Tintori V ; Veltroni M ; Bambi F ; Bigley V ; Collin M ; Tucci F ; Arico M (2013). TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT. JOURNAL OF CLINICAL IMMUNOLOGY, pp. 691-692, ISSN:0271-9142

Gambineri E (2012). New frontiers in primary immunodeficiency disorders: immunology and beyond.... CELLULAR AND MOLECULAR LIFE SCIENCES, vol. 69(1), pp. 1-5, ISSN:1420-9071

Magini P;Della Monica M;Uzielli ML;Mongelli P;Scarselli G;Gambineri E;Scarano G;Seri M (2012). Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 158A, pp. 917-921, ISSN:1552-4825 DOI

Mannurita Ciullini S; Robertson H; Vignoli M; Hambleton S; Gennery A R; Slatter M; Nademi Z; Barge D; Abinun M; Cant A; Gambineri E (2012). GUT IMMUNE RECONSTITUTION IN IPEX SYNDROME AFTER HSCT. In: 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), Florence, OCT 03-06, 2012, pp. 5-6.

Colarusso, G.; Mannurita, S. Ciullini; Vignoli, M.; Barzaghi, F.; Passerini, L.; Cancrini, C.; Cant, A.; Gennery, A.; Abinun, M.; Ikinciogullari, A.; Lionetti, P.; Bacchetta, R.; Gambineri E (2012). CLINICAL ANALYSIS OF THE COMPLEX WORLD OF INHERITED MULTIPLE AUTOIMMUNITY. In: 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), Florence, Oct 3-6, 2012, pp. 59-60.

Gambineri E ; Torgerson TR (2012). Genetic disorders with immune dysregulation.. CELLULAR AND MOLECULAR LIFE SCIENCES, vol. 69 (1), pp. 49-58, ISSN:1420-9071

Barzaghi F;Passerini L;Gambineri E;Ciullini Mannurita S;Cornu T;Kang ES;Choe YH;Cancrini C;Corrente S;Ciccocioppo R;Cecconi M;Zuin G;Discepolo V;Sartirana C;Schmidtko J;Ikinciogullari A;Ambrosi A;Roncarolo MG;Olek S;Bacchetta R (2012). Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.. JOURNAL OF AUTOIMMUNITY, vol. 38 (1), pp. 49-58, ISSN:0896-8411 DOI

Zennaro D; Scala E; Pomponi D; Caprini E; Arcelli D; Gambineri E; Russo G; Mari A. (2012). Proteomics plus genomics approaches in primary immunodeficiency: the caseof immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)syndrome.. CLINICAL AND EXPERIMENTAL IMMUNOLOGY, vol. 167(1), pp. 120-128, ISSN:0009-9104

Colarusso, Gloria; Mannurita, Sara Ciullini; Vignoli, Marina; Barzaghi, Federica; Passerini, Laura; Cancrini, Caterina; Ciccocioppo, Rachele; Ikinciogullari, Aydan; Lionetti, Paolo; Bacchetta, Rosa; Gambineri E (2012). Clinical Heterogenity of Inherited Multiple Autoimmunity: Is it only IPEX-Like?. In: Annual Meeting of the Clinical-Immunology-Society (CIS)/North American Conference on Primary Immune Deficiency Diseases, Chicago, USA, MAY 17-20, 2012, pp. 384-385.

Gambineri, E; Mannurita, Sara Ciullini; Robertson, Helen; Vignoli, Marina; Hambleton, Sophie; Gennery, Andrew; Slatter, Mary; Nademi, Zohreh; Barge, Dawn; Abinun, Mario; Cant, Andrew J. (2012). Gut Immune Reconstitution in IPEX Syndrome After HSCT. In: Annual Meeting of the Clinical-Immunology-Society (CIS)/North American Conference on Primary Immune Deficiency Diseases, Chicago, USA, MAY 17-20, 2012, pp. 380-380.

Barzaghi, F.; Passerini, L.; Gambineri E; Mannurita, S. Ciullini; Cornu, T.; Kang, E. S.; Choe, Y. H.; Cancrini, C.; Ciccocioppo, R.; Ikinciogullari, A.; Roncarolo, M. G.; Olek, S.; Bacchetta, R. (2012). IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus. In: Annual Meeting of the Clinical-Immunology-Society (CIS)/North American Conference on Primary Immune Deficiency Diseases, Chicago, USA, MAY 17-20, 2012, pp. 376-376.

Caselli, D.; Sieni, E.; Gambineri E; Cetica, V.; Brugnolo, F.; Arico, M. (2012). Role of serotherapy for SCT in familial haemophagocytic lymphohistiocytosis. In: 38th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantation (EBMT), APR 01-04, 2012, pp. S386-S386.

Bachetta, R.; Gambineri E; Passerini, L.; Barzaghi, F.; Mannurita, S. Ciullini; Colarusso, G.; Cecconi, M.; Tommasini, A.; Pirrone, A.; Badolato, R.; Cancrini, C.; Corrente, S.; Roncarolo, M. G. (2012). IPEX SYNDROME: CLINICAL AND IMMUNOLOGICAL FINDINGS. UPDATE FROM THE ITALIAN STUDY GROUP OF IPEX (WWW.IPEXCONSORTIUM.ORG). In: 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), Florence, Oct 3-6, 2012, pp. 79-79.

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Corrente, S.; Angelini, F.; Di Cesare, S.; Romiti, M. L.; Di Matteo, G.; Fierabracci, A.; Carsetti, R.; Cambiaso, P.; Barzaghi, F.; Moretti, R.; Gambineri E, Aiuti, A.; Bacchetta, R.; Cancrini, C. (2012). EARLY-ONSET OF A SYNDROME CHARACTERIZED BY IMMUNODEFICIENCY, ALOPECIA AND ACTH-DEFICIENCY. In: 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), Florence, Oct 3-6, 2012, pp. 80-81.

Fioredda F;Calvillo M;Bonanomi S;Coliva T;Tucci F;Farruggia P;Pillon M;Martire B;Ghilardi R;Ramenghi U;Renga D;Menna G;Pusiol A;Barone A;Gambineri E;Palazzi G;Casazza G;Lanciotti M;Dufour C (2011). Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).. AMERICAN JOURNAL OF HEMATOLOGY, vol. xx, pp. xx-xx, ISSN:0361-8609 DOI

Caselli, D.; Ziino, O.; Bambi, F.; Brugnolo, F.; Cannella, S.; Gambineri E.; Cetica, V.; Arico, M. (2011). Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells. In: 37th European Group for Bone and Marrow Transplantation/27th Meeting of the EBMT Nurses Group/10th Meeting of the EBMT Management Group, pp. S201-S201.

Passerini L; Di Nunzio S; Gregori S; Gambineri E; Cecconi M; Seidel MG; Cazzola G; Perroni L; Tommasini A; Vignola S; Guidi L; Roncarolo MG; Bacchetta R. (2011). Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome.. EUROPEAN JOURNAL OF IMMUNOLOGY, vol. 41 (4), pp. 1120-1131, ISSN:0014-2980

Aydin D; Barzaghi F; Gambineri E; Vignoli M; Goudy K; Ponzoni M; Doglioni C; Rizzo N; Marktel S; Aiuti A; Cicalese MP; Delle Piane RM; Tommasini A; Roncarolo MG; Bacchetta R (2010). IMMUNOLOGICAL CHARACTERIZATION OF A RARE CASE OF IMMUNE DEFICIENCY WITH IMMUNE DYSREGULATION DUE TO CD25 MUTATION. In: XIV Meeting European Society for Immunodeficiencies, Istanbul, Turkey, 6-9 October 2010, pp. 60-61.

Sara Ciullini Mannurita;Marina Vignoli;Lucia Bianchi;Maurizio de Martino;Chiara Azzari;Fernanda Falcini;Eleonora Gambineri (2010). Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome. In: 10th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, JUN 24-27, 2010, vol. 135, pp. S137-S137. DOI

Stagi S.; Lapi E.; Gambineri E.; Manoni C.; Genuardi M.; Colarusso G.; Conti C.; Chiarelli F.; de Martino M.; Azzari C. (2010). Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11). EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol. 163, pp. 329-337, ISSN:1479-683X DOI

Olivito B;Taddio A;Simonini G;Massai C;Ciullini S;Gambineri E;de Martino M;Azzari C;Cimaz R (2010). Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy.. CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol. 28, pp. 93-97, ISSN:0392-856X

C.M. Knight; E. Gambineri; M. Hackett; S. Añover-Sombke; H. Ochs; and T. Torgerson (2010). The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome. In: 1st North American Primary Immune Deficiency National Conference, Philadelphia, MAY 20-23, 2010, pp. 287-288.

L. Passerini; E. Gambineri; F. Barzaghi; S. Ciullini Mannurita; D. Aydin; E.S. Kang; C. Yon-Ho; A. Tommasini; M. Abinun; S. Hambleton; M.G. Roncarolo; S. Olek; R. Bacchetta (2010). Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes. In: 1st North American Primary Immune Deficiency National Conference, Philadelphia, USA, MAY 20-23, 2010, pp. 291-292.

Uzielli, MLG ; Gambineri E ; Dayan, N ; Di Medio, L ; Scarselli G (2010). Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies". In: 11th International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies, Fortaleza, BRAZIL, SEP 10-13, 2009, Wiley-Liss [etc.], pp. 1634-1634.

M. Tsuda; T.R. Torgerson; C. Selmi ; E. Gambineri; M. Carneiro-Sampaio; S.C. Mannurita; P.S. Leung PS;G.L. Norma; M.E. Gershwin (2010). The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.. JOURNAL OF AUTOIMMUNITY, vol. 35(3), pp. 265-268, ISSN:0896-8411

Gambineri E; Colarusso G; Slatter MA; Nademi Z; Hambleton S; Flood TJ; Abinun M; Cant AJ; Gennery AR (2010). CLINICAL AND IMMUNOLOGICAL ANALYSIS OF PATIENTS AFFECTED BY MULTIPLE AUTOIMMUNITY. In: XIV Meeting European Society for Immunodeficiencies, Istanbul, Turkey, 6-9 October 2010, pp. 150-151.

Slatter MA; Nademi Z; Barge D; Hodges S; Bunn S; Thomas JE; Harvey H; Hambleton S; Flood TJ; Cant AJ; Abinun M; Gambineri E; Gennery AR (2010). Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome .. In: XIV Meeting European Society for Immunodeficiencies, Istanbul, Turkey, 6-9 October 2010, pp. 158-158.

Colarusso G;Gambineri E;Lapi E;Casini T;Tucci F;Lippi F;Azzari C (2010). Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.. PEDIATRIC REPORTS, vol. 2, pp. 13-13, ISSN:2036-749X DOI

Marina Vignoli;Sara Ciullini Mannurita;Lucia Bianchi;Rosa Bacchetta;Massimiliano Cecconi;Alberto Tommasini;Mario Abinun;Andy Gennery;Sophie Hambleton;Mary Slatter;Andrew Cant;Maurizio de Martino;Eleonora Gambineri (2010). Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene?. In: 10th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, JUN 24-27, 2010, vol. 135, pp. S140-S140. DOI

A.N. McMurchy; J. Gillies; S.E. Allan; L.Passerini ; E. Gambineri; M.G. Roncarolo ; R.Bacchetta ; M.K. Levings (2010). 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.. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 126(6), pp. 1242-1251, ISSN:0091-6749

E Gambineri; M de Martino (2009). IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere. RIVISTA DI IMMUNOLOGIA E ALLERGOLOGIA PEDIATRICA, pp. 12-23, ISSN:0394-7939

Violi F; Sanguigni V; Carnevale R; Plebani A; Rossi P; Finocchi A; Pignata C; De Mattia D; Martire B; Pietrogrande MC; Martino S; Gambineri E; Soresina AR; Pignatelli P; Martino F; Basili S; Loffredo L. (2009). Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study.. CIRCULATION, vol. 120(16), pp. 1616-1622, ISSN:0009-7322

Stephanie Anover-Sombke;Mary Hackett;Hans Ochs;Eleonora Gambineri;Troy Torgerson (2009). OR.5. The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans. In: 9th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, JUN 11-14, 2009, vol. 131, pp. S7-S7. DOI

Olivito B; Simonini G; Ciullini S; Moriondo M; Betti L; Gambineri E; Cantarini L; De Martino M; Azzari C; Cimaz R. (2009). Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.. THE JOURNAL OF RHEUMATOLOGY, vol. 36(9), pp. 2017-2024, ISSN:0315-162X DOI

S. Stagi;E. Lapi;E. Gambineri;R. Salti;M. Genuardi;G. Colarusso;C. Conti;R. Jenuso;F. Chiarelli;C. Azzari;M. d. Martino (2009). Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).. CLINICAL ENDOCRINOLOGY, vol. 72, pp. 839-844, ISSN:1365-2265 DOI Accesso ONLINE all'editore

E. Gambineri;M. Hackett;S. Añover;Q. Zhu;E. Ocheltree;H.D. Ochs;T.R. Torgerson (2009). Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome. In: 65th Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology, Washington DC, USA, MAR 13-17, 2009, vol. 123, pp. S148-S148. DOI

CATANIA P; BERTI L; GELLI AMG; BACCINI A; RESTI M; DE MARTINO M; AZZARI C; GAMBINERI E. (2008). A case of isolated CD4+ T cell deficiency and recurrent parotitis.. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, vol. 154, pp. 160-160.

Olivito, Biagio; Ciullini, Sara; Moriondo, Maria; Betti, Letizia; Simonini, Gabriele; Cantarini, Luca; Gambineri E; De Martino, Maurizio; Azzari, Chiara; Cimaz, Rolando (2008). Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level. In: 72nd Annual Scientific Meeting of the American-College-of-Rheumatology/43rd Annual Scientific Meeting of the Association-of-Rheumatology-Health-Professionals, OCT 24-29, 2008, WILEY-BLACKWELL, COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA, pp. 410-410.

Tucci, F; Giunti, L; Gambineri, E; Tondo, A; Giglio, S; Sainati, L; Arico, M (2008). Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia?. HAEMATOLOGICA, vol. 93, pp. 49-50, ISSN:0390-6078 Accesso ONLINE all'editore

Yeganeh M.; Gambineri E.; Abolmaali K.; Tamizifar B.; Espanol T. (2008). Other well-defined immunodeficiencies. In: Rezaei N., Aghamohammadi A., Notarangelo L.D.. Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management, pp. 251-290 Springer Berlin Heidelberg, ISBN:978-3-540-78537-8. DOI

M.Yeganeh; E.Gambineri; K. Abolmaali; B. Tamizifar; T. Español (2008). Yeganeh M, Gambineri E, Abolmaali K, Tamizifar B, Español T: Other Well-Defined Immunodeficiencies (chapter 9); Textbook: Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management. Ed Nima Rezaei , Asghar Aghamohammadi, Luigi D. Notarangelo; Springer, 2008.. In: N. Rezaei , A. Aghamohammadi, L. D. Notarangelo. Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management, pp. 0-0, Berlin and Heidelberg: Nima Rezaei , Asghar Aghamohammadi, Luigi D. Notarangelo, ISBN:9783540785378.

de Beaucoudrey L; Puel A; Filipe-Santos O; Cobat A; Ghandil P; Chrabieh M; Feinberg J; von Bernuth H; Samarina A; Jannière L; Fieschi C; Stéphan JL; Boileau C; Lyonnet S; Jondeau G; Cormier-Daire V; Le Merrer M; Hoarau C; Lebranchu Y; Lortholary O; Chandesris MO; Tron F; E.Gambineri; L.Bianchi ; Rodriguez-Gallego C; Zitnik SE; Vasconcelos J; Guedes M; Vitor AB; Marodi L; Chapel H; Reid B; Roifman C; Nadal D; Reichenbach J; Caragol I; Garty BZ; Dogu F; Camcioglu Y; Gülle S; Sanal O; Fischer A; Abel L; Stockinger B; Picard C; Casanova JL. (2008). Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. JOURNAL OF EXPERIMENTAL MEDICINE, vol. 205, pp. 1543-1550, ISSN:0022-1007

Colarusso, G.; Lippi, F.; Gambineri E, Lombardi, E.; Bianchi, L.; Gelli, A. M. G.; Azzari, C. (2008). A case of recurrent lower respiratory infections. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 159-159.

Gambineri E;Perroni L;Passerini L;Bianchi L;Doglioni C;Meschi F;Bonfanti R;Sznajer Y;Tommasini A;Lawitschka A;Junker A;Dunstheimer D;Heidemann PH;Cazzola G;Cipolli M;Friedrich W;Janic D;Azzi N;Richmond E;Vignola S;Barabino A;Chiumello G;Azzari C;Roncarolo MG;Bacchetta R (2008). Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 122, pp. 1105-1112, ISSN:0091-6749 DOI

MANNURITA SC; GAMBINERI E; BIANCHI L; SERENA G; LIONETTI P; GELLI AM; AZZARI C; DE MARTINO M. (2008). Expression of FOXP3+ CD4+ CD25+ regulatory T cells in patients with inflammatory bowel disease.. In: 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, USA, JUN 05-09, 2008, vol. 127, pp. 122-122.

Azzari C.; Moriondo M.; Indolfi G.; Betti L.; Gambineri E.; de Martino M.; Resti M. (2008). Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection. JOURNAL OF MEDICAL VIROLOGY, vol. 80, pp. 65-71, ISSN:0146-6615

Gambineri E, Mannurita, S. C.; Bianchi, L.; Bacchetta, R.; Perroni, L.; Azzari, C. (2008). Molecular investigations on IPEX-like syndrome: what is beyond FOXP3?. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 41-42.

Bianchi, L.; Mannurita, Ciullini S.; Gelli, A. M. G.; Azzari, C.; Gambineri E (2008). Different methods to analyze CD4+CD25+FOXP3+T regulatory cells. In: 3th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 167-168.

Gambineri E, Bianchi, L.; Giunti, L.; Mannurita, Ciullini S.; Azzari, C. (2008). A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 128-128.

Giunti, L.; Gambineri E; Casini, T.; Arico, M.; Tucci, F. (2008). A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 4-4.

Tucci, F.; Giunti, L.; Gambineri E; Tondo, A.; Giglio, S.; Sainati, L.; Arico, M. (2008). Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia?. In: 35th National Congress of the Associazione-Italiana-Ematologia-Oncologia-Pediatrica, OCT 26-28, 2008, pp. S49-S50.

Bacchetta, R.; Gambineri E; Perroni, L.; Bianchi, L.; Passerini, L.; Sznajer, Y.; Tommasini, A.; Lawitschka, A.; Junker, A.; Dunstheimer, D.; Cazzola, G.; Friedrich, W.; Richmond, E.; Janic, D.; Vignola, S.; Roncarolo, M. G. (2008). Update on clinical and molecular profile of immune-dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): hints for early diagnosis. In: 13th European-Soc-for-Immunodeficiencies/10th Int-Patient-Org-for-Primary-Immunodeficiencies/8th Int-Nursing-Group-for-Immunodeficiencies Meeting, OCT 16-19, 2008, pp. 38-38.

Lucia Bianchi;Eleonora Gambineri;Sara Ciullini Mannurita;Chiara Azzari;Maurizio de Martino;Fernanda Falcini (2008). Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome. In: 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, USA, JUN 05-09, 2008, vol. 127, pp. S157-S157. DOI

Eleonora Gambineri;Lucia Bianchi;Sara Ciullini Mannurita;Anna Maria Gelli;Paolo Lionetti;Maurizio de Martino;Chiara Azzari (2008). F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype. In: 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston,USA, JUN 05-09, 2008, vol. 127, pp. S69-S69. DOI

T.R.Torgerson;A.Linane;N.Moes; S.Anover; V.Mateo;F.Rieux-Laucat; O.Hermine; S.Vijay;E.Gambineri;N.Cerf-Bensussan;A.Fischer; H.D.Ochs; O.Goulet;F.M.Ruemmele (2007). Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. GASTROENTEROLOGY, vol. 132, pp. 1705-1717, ISSN:0016-5085

R.Bacchetta; E.Gambineri; M.G.Roncarolo (2007). Role of regulatory T cells and FOXP3 in human diseases. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 120, pp. 227-235, ISSN:0091-6749

Francesca, M.; Li, G. Gel; Bianchi, L.; Gambineri E.; Pucci, N.; Bernardini, R.; Rossi, M.; Azzari, C.; Novembre, E. (2007). CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation. In: 26th Congress of the European-Academy-of-Allergology-and-Clinical-Immunology, JUN 09-13, 2007, pp. 355-355.

H. Ochs; E. Gambineri; T. Torgerson (2007). IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity. IMMUNOLOGIC RESEARCH, vol. 38, pp. 112-121, ISSN:0257-277X

Stephanie Anover;Avriel Linane;Shashi Vijay; Gambineri E;Olivier Goulet;N. Moes;Frank Ruemmele;Hans Ochs;Troy Torgerson (2006). Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg. In: 6th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, San Francisco, USA, JUN 01-05, 2006, vol. 119, pp. S139-S139. DOI

R. BACCHETTA; E. GAMBINERI; L. PASSERINI; A. ET; M. RONCAROLO (2006). DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS. In: KEYSTONE MEETING 'TOLERANCE, AUTOIMMUNITY AND IMMUNE REGULATION' BRECKENRIDGE, COLORADO,USA, MARCH 2006., BRECKENRIDGE, COLORADO,USA, pp. x-x.

L.D. NOTARANGELO; E. GAMBINERI; R. BADOLATO (2006). IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES. ADVANCES IN IMMUNOLOGY, vol. 89, pp. 321-370, ISSN:0065-2776

Bacchetta R;Passerini L;Gambineri E;Dai M;Allan SE;Perroni L;Dagna-Bricarelli F;Sartirana C;Matthes-Martin S;Lawitschka A;Azzari C;Ziegler SF;Levings MK;Roncarolo MG (2006). Defective regulatory and effector T cell functions in patients with FOXP3 mutations.. THE JOURNAL OF CLINICAL INVESTIGATION, vol. 116, pp. 1713-1722, ISSN:0021-9738 DOI

E. GAMBINERI; R. BACCHETTA; L. PASSERINI; A. ET (2006). DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE. In: 6TH FOCIS MEETING ,JUNE 1-5, 2006, SAN FRANCISCO, CA, USA, pp. S19-S19.

E. GAMBINERI; T. TORGERSON; H. OCHS; S. ZIEGLER (2006). IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX). In: H.D. Ochs, C.I.E. Smith, J.M. Puck. PRIMARY IMMUNODEFICIENCY DISEASES: A MOLECULAR & CELLULAR APPROACH, 2ND EDITION, pp. 355-366, Oxford: HANS D. OCHS, C. I. EDWARD SMITH, JENNIFER M. PUCK.

Stagi, Stefano; Losi, Stefania; Gambineri E, Bianchi, Lucia; Azzari, Chiara; Chiarelli, Francesco; Salti, Roberto (2006). FOXP3 expression and regulatory T-cell function in patients with Turner's syndrome. In: ESPE, pp. 32-32.

Rosa Bacchetta;Laura Passerini;Gambineri E;Sarah Allan;Lucia Perroni;Susan Matthes-Martin;Anita Lawitschka;Steven Ziegler;Megan Levings;Maria Grazia Roncarolo (2006). OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes. In: 6th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, San Francisco, USA, JUN 01-05, 2006, vol. 119, pp. S19-S19. DOI

C.Azzari; E.Gambineri; M.Resti; M.Moriondo;L.Betti; L.R.Saldias; G. Gelli; A.Vierucci (2005). Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome).. VACCINE, vol. 23(14), pp. 1668-1671, ISSN:0264-410X

Torgerson, TR; Gambineri E; Vijay, S; Anover, S; Ochs, HD (2005). Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome.. In: 5th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, USA, MAY 12-16, 2005, pp. S10-S10.

Baccini A; Azzari C; Carbonella R; Gambineri E; Lippi F; Vierucci A; Indolfi G; de Martino M. (2005). Chronic granulomatous disease in two adolescent males: uncommon mild presentation. THE ITALIAN JOURNAL OF PEDIATRICS, pp. 268-271, ISSN:1824-7288

E. GAMBINERI (2005). A case of antibody deficiency: CVID or XLA?. In: 5th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, BOSTON, MA, USA., MAY 12-16, 2005, pp. 10-10.

E. MAZZOLARI;C. FIORINO; M. FONTANA;C. D'IPPOLITO; A. LANFRANCHI; E. GAMBINERI; H. OCHS; R. BADOLATO; L.D. NOTARANGELO (2005). A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION.. BONE MARROW TRANSPLANTATION, vol. 35, pp. 1033-1034, ISSN:0268-3369

A. VIERUCCI; E. GAMBINERI; R. BERNARDINI (2004). RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA. PROSPETTIVE IN PEDIATRIA, vol. 34, pp. 179-188, ISSN:0301-3642

E. GAMBINERI; L. BIANCHI; A. ET (2004). AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS. In: XI ESID MEETING, OCTOBER 21-24,2004., VERSAILLES, FRANCE, pp. XX-XX.

E. GAMBINERI; T. TORGERSON; H. OCHS; W. LEE; Q. ZHU; Y. JIN (2004). THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES. In: M.C. Dalakas, P.J. Spath. INTRAVENOUS IMMUNOGLOBULINS: IN THE THIRD MILLENNIUM, pp. 57-69, Bethesda, USA e Berna, Svizzera: MARINOS C. DALAKAS AND PETER C. SPATH.

E. GAMBINERI; T. TORGERSON (2004). Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME. In: E.R. Stiehm, H.D.Ochs, J.A. Winkelstein. IMMUNOLOGIC DISORDERS IN INFANTS AND CHILDRENS, pp. 521-523, PHILADELPHIA: STHIEM ER, OCHS HD, WINKELSTEIN J.

W.I. Lee; Q. ZHU; E. Gambineri;Y. Jin; A.A. Welcher AA; H.D. Ochs (2003). INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS.. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 112, pp. 948-964, ISSN:0091-6749

E. GAMBINERI; T.R.TORGERSON; H.D.OCHS (2003). 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.. CURRENT OPINION IN RHEUMATOLOGY, vol. 15, pp. 430-435, ISSN:1040-8711

Lee W.-I.; Zhu Q.; Gambineri E.; Jin Y.; Welcher A.A.; Ochs H.D. (2003). Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 112, pp. 958-964, ISSN:0091-6749 DOI

E. GAMBINERI; C. AZZARI; M. MORIONDO; A. ET (2003). LE IPER-IGE. In: Vierucci A.. IL BAMBINO ALLERGICO, pp. 459-464, Firenze: VIERUCCI ALBERTO.

Torgerson, TR; Gambineri E; Vijay, S; Gersuk, V; Ziegler, SF; Ochs, HD (2003). Clinical, laboratory and molecular analysis of 30 patients with the phenotype of IPEX syndrome.. In: 67th Annual Scientific Meeting of the American-College-of-Rheumatology/38th Annual Scientific Meeting of the Association-of-, OCT 23-28, 2003, vol. 48, pp. 3617-3617.

E. GAMBINERI; C. AZZARI; L. BETTI; A. ET (2003). VACCINAZIONI NEGLI ALLERGICI. In: Vierucci A.. IL BAMBINO ALLERGICO, pp. 435-438, Firenze: VIERUCCI ALBERTO.

Gambineri E; Torgerson, TR; Bennett, CL; Amoroso, A; Barker, DF; Cunningham-Rundles, C; Notarangelo, L; Ronchetti, R; Sakiyama, Y; Ochs, HD (2002). Mutations of FOXP3 causing IPEX syndrome.. In: II meeting of Federation of Clinical Immunology Societies, San Francisco, USA, June, 28-July, 1, 2002, vol. 103, pp. S139-S140.

Lee, WI; Zhu, QL; Sweetser, M; Torgerson, TR; Gambineri E; Ochs, HD (2002). The molecular basis of Hyper IgM syndrome (HIM). In: II meeting of Federation of Clinical Immunology Societies, San Francisco, USA, June, 28-July,1,2002, pp. S115-S115.

Azzari C; Resti M; Moriondo M; Gambineri E; Rossi ME; Novembre E; Vierucci A. (2001). Lack of transmission of TT virus through immunoglobulins. TRANSFUSION, pp. 1505-1508, ISSN:0041-1132

PROFESSIONAL EXPERIENCE ABROAD

▪   2001-2003: Fellowship, Paediatric Immunology: Professor Hans Ochs, University of Washington, Department of Paediatrics, Medical Center, Seattle, WA.

▪   2009-2010: Clinical/Research attachment in Prof. Andrew Cant’s clinic and research program, Children’s Bone Marrow Transplantation Unit-Newcastle General Hospital, Newcastle upon Tyne, UK.

▪   07/2010: "Honorary Observer Contract" at Great Ormond Street Children's Hospital (Dr. Paul Veys, BMT Unit), London, UK.

▪   12/2010-12/2011: Appointed as Visiting Professor at Newcastle University, Newcastle upon Tyne, UK.

PERSONAL SKILLS AND COMPETENCES

Curriculum

INFORMAZIONI PERSONALI	ELEONORA GAMBINERI

	eleonora.gambineri@unifi.it
	Skype ID: elegambis
	Sex F \| Date of Birth 07/04/1974 \| Nationality Italian

Professional Field Paediatrics, Paediatric Immunology, Haematology and Oncology

QUALIFICATION Medical Doctor; Paediatrician; Master in Paediatric Allergy and Immunology.

BIOMETRICS

▪ Official H Index: 32

▪ Total Citations: 4,919

▪ Average Citations/year (2014-2024): 340

▪ Scopus author id: 7801396916

▪ ORCID author id: 0000-0002-4676-6541

▪ RESEARCH ID author code: J-8747-2016

▪ PUBLICATIONS: https://www.ncbi.nlm.nih.gov/pubmed/?term=gambineri+e

EDUCATION

▪ November 2007: Selected Participant at CIS Summer School in Primary immunodeficiencies, Miami, USA

▪ September 2003: Selected Participant at ESID Summer School in Primary immunodeficiencies, Algavre, Portugal

▪ 2006-2008: University of Tor Vergata, Rome Italy, Master Degree in Paediatric Immunology

▪ 2000-2006: University of Florence, Department of Paediatrics/ Anna Meyer Children’s Hospital, Florence, Italy, Certification as Paediatrician

▪ 2000: National Medical Board, Italy

▪ 1993-1999: University of Florence, Florence, Italy, Doctorate in Medicine with highest honours

▪ 1993: High School Diploma (Classical education), Liceo Ginnasio “Dante”, Florence

CURRENT POSITION

▪ 2010 to date: Children’s BMT Unit, Department of Haematology/Oncology “Meyer Children’s Hospital, IRCCS, Florence, Italy

▪ 2018 to date: Associate Professor of Paediatrics (SC 06/G1, SSD MED/38, permanent position): University of Florence, Department of NEUROFARBA, Florence Italy.

▪ 2021 to date: Head of Immuno-haemato-oncology Unit, Department of Haematology/Oncology, Meyer Children’s Hospital, IRCCS, Florence, Italy

▪ 2021 to date: Search Coordinator IBMDR for the paediatric HSC transplant program, Meyer Children’s Hospital, IRCCS, Florence, Italy

PREVIOUS POSITIONS:

▪ 1996-2001: Research fellow in the Paediatric Immunology lab and in Primary Immunodeficiency Clinic, University of Florence, “Anna Meyer” University Children’s Hospital, Florence, Italy.

▪ 2003-2004: Researcher (time-contract): University of Florence, Florence Italy.

▪ 2005-2018: Researcher/Assistant Professor (permanent position): University of Florence, Florence Italy.

▪ 2013- 2014: Rare Diseases Coordinator/Facilitator, A.O.U. Meyer, Florence, Italy

Mother Tongue	Italian

Other Languages	COMPREHENSION		SPEAKING		WRITING
Other Languages	Listening	Reading	Spoken interaction	Spoken production
English	C2	C2	C2	C2	C1
	2000-2001: Advance English Course at Wall Street Institute, Florence 2001-2002: Advance English Course at University of Washington, Seattle, USA

Levels: A1/A2: Basic user - B1/B2: Independent user - C1/C2 Proficient user

Communication Skills

I have good communication skills acquired during my experience as a speaker at national and international conferences / symposia / educational courses

Organizational and management skills

▪ From 2006 to 2024, as a member of the executive board of the European Society for Immunodeficiencies, I participate in the organization of international congresses and educational courses

▪ From 2004 I coordinate a research laboratory team (now 2 research fellows, 1 senior biologist and PhD students) at the NEUROFARBA Department, University of Florence

▪ I have a valid network of international and national collaborations in both scientific and clinical fields of paediatric immunology and haemato-oncology

Field of Interest

Professional Goals

Other Skills

My background and strong research interest have always been revolved around primary immunodeficiency (PID), with particular focus on immune dysregulation disorders. I did part of my training abroad in preeminent centres (USA and UK) and I was involved in studying both clinical and molecular aspects of PID as well as treatment options (i.e. BMT/cellular therapies). This has opened enormous possibilities for fruitful collaborative research also enhanced by my longstanding involvement in the activities of the European Society for Immunodeficiencies (ESID) since 2006. My clinical and research activity during the past 20 years has been mainly focused on PID, autoimmunity and predisposition to cancer. I have participated to several international and national conferences presenting my research data (posters and orals) and as invited speaker. I am author of 76 manuscripts, in peer-reviewed papers (https://www.ncbi.nlm.nih.gov/pubmed/?term=gambineri+e), and 7 chapters of books in English, besides several publications in national journals.

Moreover, I was involved in the development of international clinical practice guidelines for the immunological management of chromosome 22q11.2 Deletion Syndrome and other defects in thymic development (DOI: 10.1007/s10875-024-01655-3) and I am currently part of an ESID expert committee that is developing vaccination guidelines for immunocompromised patients (pending publication).

To unravel congenital Immune defects in haematologic diseases.

To define the role of the immune system in development and progression of pediatric cancer.

Experience in cellular based therapies for malignant and non-malignant diseases.

To Explore the mechanisms of immune reconstitution post allogeneic HSCT.

1994-1998: Waterpolo player (Rari Nantes Florentia, C and B division)

2014 to date: amateur marathon and half-marathon runner (international and national races); Abbott World Marathon Majors: Six Stars Finisher (2015-2024)

2024 to date: swimming competitions in Masters category

ADDITIONAL INFORMATIONS

Research Grants

Awards and Honours

Teaching

Supervision of graduate students and postdoctoral fellows

Organisation of scientific meetings

Reviewing Activities

Editorial Boards

Collaborations

Professional Organizations

▪ 12/2004 and 07/2007: Telethon Research Grant: “From FOXP3 mutation to IPEX: genotype-phenotype, pathogenetic mechanisms and therapeutic options” (2004-2006) and (2007-2010)

▪ 04/2005: MIUR-Cofin 2005 (Italian National Institute of research and education) research grant: “Innovative approaches on gene therapy for neurological and immunological genetic diseases” (2006-2008)

▪ 12/ 2008: Health Ministry Research Grant for Young Investigators: “HLA-G: a new tolerogenic marker for tolerance induction mediated by regulatory T cells” (2008-2010)

▪ 03/2013: Jeffrey Modell Foundation Specific Defect Research Grant: “Role of gut immune system in controlling immune dysregulation: acute gut GvHD and IPEX/IPEX-like syndromes as models” (2013-2015)

▪ 12/2013: Health Ministry Research Grant for Young Investigators: “Role of gut environment in the immune reconstitution after hematopoietic stem cell transplantation (HSCT)” (GR-2011-02349759) (2014-2017)

▪ 09/2014: Ente Cassa di Risparmio di Firenze 2014 Research Grant: “Ruolo del sistema immunitario intestinale nel controllo delle immunodisregolazioni: malattia del trapianto verso l'ospite sindromi IPEX e “IPEX-like” come modelli di studio” (2014-2015)

▪ 12/2017: MIUR-Cofin 2016 (Italian National Institute of Research and Education) research grant: “From allergic and autoimmune diseases to immune-dysregulated disorders: clinical, immunological, genetic characterization and proposal of diagnostic and therapeutic protocols (2018-2021)

▪ 01/2018: Jeffrey Modell Foundation Specific Defect Research Grant: “Autoimmune cytopenias as “new warning sign” of primary immunodeficiency disorders” (2018-2020)

▪ 09/2018 and 09/2020: Ente Cassa di Risparmio di Firenze 2018 Research Grant: “Citopenie autoimmuni come segno di immunodeficienza primitiva: approccio immunologico e molecolare per ottimizzare il percorso diagnostico-terapeutico” (2018-2019;2020-2021)

▪ 01/2022: Jeffrey Modell Foundation Specific Defect Research Grant: “Pediatric Non-Hodgkin lymphomas as new “pointer” of primary immunodeficiencies: focusing on immune defect-associated cancer” (2022-2024)

▪ 10/2023: PRIN 2022 (Italian Ministry of University and Research) research grant (2022W839, years 2023-2025): “STAT3-related inborn errors of immunity: unraveling disease mechanisms and potential targets”

▪ 07/2023: Fondazione Telethon-Cariplo Grant (GJC22072, years 2023-2025): “Unravelling the role of ZNF341 in Hyper IgE, STAT3- and STAT1-gain of function related inborn errors of immunity”

▪ 12/2023: European Joint Program on Rare Disease 2023 (coordinator of an international multicenter study 2024-2027): “The interplay between Inborn Error of Immunity and blood disorders: unravelling immune defects behind common haematological diseases”; IEI-HAEM Consortium (Coordinator: E. Gambineri, Italy; Partners: Frédéric Rieux-Laucat, France, Pere Soler Palacín, Spain, Elie Haddad and Vincent-Philippe Lavallée, Canada, Maria Teresa Voso, Italy, Qiang Pan-Hammarström, Sweeden)

▪ 01/ 2004: Elected as the head of the European ESID registry for IPEX syndrome, serving as "Head of the Steering Committee."

▪ 12/ 2005: Elected as co-lead of the IPEX Study Protocol within the AIEOP Strategic Study Committee on Primary Immunodeficiencies.

▪ 06/2006: Invited to participate in the European Primary Immunodeficiencies Consensus Conference, Frankfurt, Germany, June 19–20, 2006.

▪ 2006-2018: ESID Board Member with the following roles: Head of ESID Juniors Working Party (2006-2008), ESID Treasurer (2008-2014), Head of Educational Working Party (2014-2018)

▪ 2009: Appointed guest editor for a multi-author review on "Heritable Immunodeficiencies" for the journal *Cellular and Molecular Life Sciences (CMLS)*.

▪ December 1, 2011: Served as a Telethon researcher testimonial at the event held in the Salone dei Cinquecento at Palazzo Vecchio, Florence, during the 2011 Telethon Marathon.

▪ December 3, 2011: Served as a Telethon researcher testimonial at the event held at the Maliseti football field in Prato for a match between the "Prato City Councilors and Hospital Doctors" during the 2011 Telethon Marathon.

▪ 2012: Awarded with “Premio Giovani Ricercatori 2012 (Young Researcher Award)” Anna Meyer Children’s Hospital

▪ 2002-2019: Awarded with 9 Travel Grants to attend international meetings and Summer Schools (ESID Summer School, FOCIS, CIS Primary Immune Disorders Consortium Conference, AAAAI, CIS Annual Meeting Primary Immune Deficiency Diseases etc.)

▪ 2015: Elected by Baxalta/Shire as a member of the PID Management Steering Committee to develop and moderate clinical cases within the interactive workshop “Patient in Practice” at the IPIC Meeting 2015 and the ESID Meeting 2016.

▪ 2008-2025: invited speaker to several national and mostly international Conferences on Paediatric Immunology and Haematology (average 2-3/year in the past 10 years)

▪ 2018 and 2024: Elected as a member of the Health Council, Meyer University Hospital, IRCCS, Florence

▪ 2019 to date: Member of SIOPEN Immunotherapy Subcommittee

▪ 2020 to 2024: Secretary of ESID

▪ 2022 to 2024: Expert member (ESID representative) of Scree4Rare

▪ 11/2023: Participation as expert to Ad-hoc Expert Group (AHEG) meeting on Joenja (leniolisib) by Committee for Human Medicinal Products (CHMP)- European Medicines Agengy (EMA)

▪ 2023 to date: Member of the Education subcommittee of the EHA SWG on Pediatric Hematology

▪ 03/2024 to date: Member of the IPEX Clinical Expert Committee (IRIS RHU project for development of gene therapy)

▪ 2005 to present: faculty member of School of Medicine, School of Nurses, Physiotherapy School, Science of Primary Education School, and Paediatric Residency Program University of Florence

▪ 2006 to 2022: Member of ESID Educational Committee and faculty member of ESID Summer Schools

▪ 2020 and 2024: Faculty member of the International Alliance of PID Societies (IAPIDS) Advance course on Primary Immunodeficiencies (February 2020 and 2024)

▪ 2005 to present: faculty member of School of Medicine, School of Nurses, Physiotherapy School, Science of Primary Education School, and Paediatric Residency Program University of Florence

▪ 2006 to 2022: Member of ESID Educational Committee and faculty member of ESID Summer Schools

▪ 2020 and 2024: Faculty member of the International Alliance of PID Societies (IAPIDS) Advance course on Primary Immunodeficiencies

▪ 2005 to present: faculty member of School of Medicine, School of Nurses, Physiotherapy School, Science of Primary Education School, and Paediatric Residency Program University of Florence

▪ 2006 to 2022: Member of ESID Educational Committee and faculty member of ESID Summer Schools

▪ 2020 and 2024: Faculty member of the International Alliance of PID Societies (IAPIDS) Advance course on Primary Immunodeficiencies

From 2005 to 2024, I have supervised approximately 42 graduate students and postdoctoral fellows, supporting their academic development, research training, and career progression in the field of paediatrics and paediatric immunology.

▪ 2010: Meeting President of the ESID Junior Educational Workshop, (January 11-12, 2010, Florence, Italy)

▪ 2012: Meeting President of the 15th Biennial Meeting of ESID (October 3-6, 2012, Florence, Italy)

▪ 2008-2018 and 2020-2025: Member of the Scientific Committee for the organization of the annual and biennial ESID Congresses (2008:'s-Hertogenbosch, The Netherlands (October 16-19); 2010: Istanbul, Turkey (October, 6-9); 2012: Florence, Italy (October 3-6); 2014: Prague, Czech Republic (October 29 – November 1); 2016: Barcelona, Spain (September 21-24); 2017: Edinburgh, United Kingdom (September 11-14); 2018: Lisbon, Portugal (October 24-27); 2021: Online (September 27-29); 2022: Gothenburg, Sweden (October 12-15); 2024: Marseille, France (October 16-19); 2025: ESID-EHA-SIOPE Focused Symposium (November 18-20)

▪ 2025: Meeting President of the First international meeting of the IEI-Haem Consortium (January 24, 2025, Florence, Italy)

Referee for peer reviewed journals: Pediatric Research (2009); Pediatric Allergy and Immunology (2009); The Pediatric Infectious Disease Journal (2010); Journal of Allergy and Clinical Immunology (from 2013 to date); Clinical Immunology (2014); Journal of Clinical Immunology (from 2014 to date); Frontiers Immunology and Paediatrics (from 2015 to date); Frontiers in Paediatrics, section Paediatric Haematology and Immunology (from 2016 to date); Expert Review of Clinical Immunology (2016); Paediatric Allergy, Immunology, and Pulmonology (2016); Journal of Clinical Immunology (2017); Frontiers in Immunology (2017 to date);

Scientific Evaluator for research grants: Research Council of K.U.Leuven, Research proposal by professor Xavier Bossuyt"; Regulation of the immune response to encapsulated Streptococcus pneumoniae " (2012); University of Modena Reggio Emilia, Research Proposal by professor Carlo Salvarani “Metabolomics and immunological analysis to detect metabolic and inflammatory pathways interaction between psoriasis and psoriatic arthritis”, Bando FAR 2021;

Review panel member of the HDR Committee for Marianna Parlato’s Defence, University of Paris, November 23, 2021

2009 to date: Pediatric Reports, Member of Editorial Board

2022 to date: Associate Editor Frontiers in Pediatrics (Pediatric Immunology)

▪ 05-07/2004: Collaborative work in Professor Maria Grazia Roncarolo’s laboratory, San Raffaele Telethon Institute for Gene therapy (HSR-TIGET), Milan, Italy.

▪ 01/2005: Collaborative work in Professor Luigi D. Notarangelo’s clinic, Department of Paediatrics, University of Brescia, Brescia, Italy.

▪ 06-09/2005; 08/2008; 02-03/2017: Collaborative work in Dr Troy R. Torgerson/Professor Hans D. Ochs’ lab, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA.

▪ 01/2013-12/2014: Collaboration with Department of Foetal and Neonatal Medicine: Rare Diseases, "Anna Meyer" University Children's Hospital, Florence, Italy.

▪ Major collaborators:

– Dr Troy R. Torgerson/Professor Hans D. Ochs’ lab, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA.

– Prof. Raffaele Badolato, University of Brescia, Brescia, Italy

– Dr. Alberto Tommasini, IRCCS Burlo Garofalo, Trieste, Italy

– Prof. Isabelle Meyts, University of Leuven, Belgium

– Prof. Stephan Ehl, University of Freiburg, Center for Chronic Immunodeficiency – CCI

– Prof. Andrew Gennery/Prof. Sophie Hambleton, University of Newcastle upon Tyne, UK

– Sergio D. Rosenzweig, NIH, USA

– Kate Sullivan, Chief of Allergy Immunology, CHOP, USA

– Jolan Walter, USF, Johns Hopkins All Children's Hospital, St. Petersburg, USA

– Prof. Franco Locatelli, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy

– Prof. Frederic Rieux-Laucat, Imagine Institute, Paris, France

– Prof. Père Soler Palacín, Vall d’Hebron Institut de Recerca, Barcelona, Spain

– Prof. Qiang Pan-Hammarström, Karolinska Institutet, Stockholm, Sweden

– Prof. Elie Haddad, CHU Sainte-Justine, University of Montreal, Montreal, Canada

▪ Italian Society of Haematology/Oncology (AIEOP), Member

▪ Clinical Immunology Society (CIS), Member

▪ European Haematology Association (EHA), member

▪ European Society for Immunodeficiencies (ESID), Member

– Board Member (2006-2008) as head of the ESID Junior WP

– Board Member (2008-2014) as ESID Treasurer

– Board Member (2014-2018) as head of the ESID Educational WP

– Board Member (2020-2024) as ESID Secretary

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