IL-2 Signaling Axis Defects: How Many Faces?

by Filippo Consonni, Claudio Favre, Eleonora Gambineri, Eleonora Gambineri
Published 2021-07-01

Atypical Presentations of IPEX: Expect the Unexpected

by Filippo Consonni, Sara Ciullini Mannurita, Eleonora Gambineri, Eleonora Gambineri
Published 2021-02-01

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

by Shahrzad Bakhtiar, Julia Fekadu, Markus G. Seidel, Eleonora Gambineri, Eleonora Gambineri
Published 2019-11-01

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

by Gloria Colarusso, Eleonora Gambineri, Elisabetta Lapi, Tommaso Casini, Fabio Tucci, Francesca Lippi, Chiara Azzari
Published 2010-06-01

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study

by Ebe Schiavo, Beatrice Martini, Enrico Attardi, Filippo Consonni, Sara Ciullini Mannurita, Maria Luisa Coniglio, Marco Tellini, Elena Chiocca, Ilaria Fotzi, Laura Luti, Irene D’Alba, Marinella Veltroni, Claudio Favre, Eleonora Gambineri, Eleonora Gambineri
Published 2022-01-01

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

by Eleonora Gambineri, Eleonora Gambineri, Sara Ciullini Mannurita, Sara Ciullini Mannurita, David Hagin, Marina Vignoli, Marina Vignoli, Stephanie Anover-Sombke, Stacey DeBoer, Gesmar R. S. Segundo, Eric J. Allenspach, Claudio Favre, Hans D. Ochs, Troy R. Torgerson
Published 2018-11-01

Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia

by Sara Ciullini Mannurita, Rayan Goda, Ebe Schiavo, Maria Luisa Coniglio, Annachiara Azzali, Ilaria Fotzi, Annalisa Tondo, Veronica Tintori, Stefano Frenos, Maria Chiara Sanvito, Marina Vignoli, Cristina Luceri, Elisabetta Bigagli, Alessia Grassi, Mario Milco D’Elios, Claudio Favre, Eleonora Gambineri, Eleonora Gambineri
Published 2021-01-01

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression

by Francesca Todaro, Nicola Tamassia, Marinella Pinelli, Daniele Moratto, Laura Dotta, Alessia Grassi, Filippo Consonni, Mauro Giacomelli, Paolo Lionetti, Elisa Gardiman, Marco A. Cassatella, Eleonora Gambineri, Roberto Berni Canani, Raffaele Badolato
Published 2019-07-01

Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome

by Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Jolan Eszter Walter, Emma Westermann-Clark, Emma Westermann-Clark
Published 2021-03-01

A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION

by Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Lucia Pedace, Luca Arcuri, Raffaele Badolato, Sonia Bonanomi, Erika Borlenghi, Emilia Cirillo, Tiziana Coliva, Filippo Consonni, Francesca Conti, Piero Farruggia, Eleonora Gambineri, Fabiola Guerra, Gaia Mancuso, Antonio Marzollo, Riccardo Masetti, Concetta Micalizzi, Daniela Onofrillo, Claudio Pignata, Valeria Santini, Francesca Vendemini, Andrea Biondi, Francesco Saettini
Published 2023-12-01

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

by Christian Klemann, Myrian Esquivel, Aude Magerus-Chatinet, Myriam R. Lorenz, Ilka Fuchs, Nathalie Neveux, Martin Castelle, Jan Rohr, Claudia Bettoni da Cunha, Martin Ebinger, Robin Kobbe, Bernhard Kremens, Florian Kollert, Eleonora Gambineri, Kai Lehmberg, Markus G. Seidel, Kathrin Siepermann, Thomas Voelker, Volker Schuster, Sigune Goldacker, Klaus Schwarz, Carsten Speckmann, Capucine Picard, Alain Fischer, Frederic Rieux-Laucat, Stephan Ehl, Anne Rensing-Ehl, Benedicte Neven
Published 2017-02-01

HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY

by Jonathan Bohlen, Marine Michelet, Federica Barzaghi, Francesco Saettini, Francesca Vendemini, Albert Catala, Laia Alsina, Francesca Conti, Fillippo Consonni, Davide Learndini, Riccardo Masetti, Edoardo Muratore, Francesco Baccelli, Ivan Bagaric, Taja Vatovec, Feroj Seyed, Isabelle Andre, Lori Buetow, Eric Delabesse, Laetitia Largeaud, Cindy Ma, Laurent Abel, Steicy Sobrino, Masato Ogishi, Boris Bessot, Cecile Rouillon, Christine Bole, Yoann Seeleuthner, Tom Le Voyer, Darawan Rinchai, Jeremie Rosain, Peng Zhang, Matthieu Chaldebas, Anna-Lena Neehus, Lucia Erazo, Zarah Janda, Camille Soudee, Chantal Lagrese, Emmanuelle Six, Danny Huang, Stuart Tangye, Vivien Beziat, Eleonora Gambineri, Marinella Veltroni, Miriam Erlacher, Alessandro Aiuti, Marlene Pasquet, Jean-Laurent Casanova, Jacinta Bustamante
Published 2023-12-01