IL-2 Signaling Axis Defects: How Many Faces?

por Consonni, Filippo, Favre, Claudio, Gambineri, Eleonora
Publicado 2021

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies

por Consonni, Filippo, Gambineri, Eleonora, Favre, Claudio
Publicado 2022

Atypical Presentations of IPEX: Expect the Unexpected

por Consonni, Filippo, Ciullini Mannurita, Sara, Gambineri, Eleonora
Publicado 2021

Extensive dental caries and periodontal disease in a child with GATA2 deficiency

por Consonni, Filippo, Gambineri, Eleonora, Veltroni, Marinella, Callea, Michele
Publicado 2023

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

por Bakhtiar, Shahrzad, Fekadu, Julia, Seidel, Markus G., Gambineri, Eleonora
Publicado 2019

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

por Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara
Publicado 2010

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

por Zama, Daniele, Cocchi, Ilaria, Masetti, Riccardo, Specchia, Fernando, Alvisi, Patrizia, Gambineri, Eleonora, Lima, Mario, Pession, Andrea
Publicado 2014

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

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

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

por Passerini, Laura, Di Nunzio, Sara, Gregori, Silvia, Gambineri, Eleonora, Cecconi, Massimiliano, Seidel, Markus G, Cazzola, Giantonio, Perroni, Lucia, Tommasini, Alberto, Vignola, Silvia, Guidi, Luisa, Roncarolo, Maria G, Bacchetta, Rosa
Publicado 2011

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

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

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

por Eren Akarcan, Sanem, Edeer Karaca, Neslihan, Aksu, Guzide, Aykut, Ayca, Yilmaz Karapinar, Deniz, Cetin, Funda, Aydinok, Yesim, Azarsiz, Elif, Gambineri, Eleonora, Cogulu, Ozgur, Ulusoy Severcan, Ezgi, Alper, Hudaver, Kutukculer, Necil
Publicado 2018

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

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

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

por Gambineri, Eleonora, Ciullini Mannurita, Sara, Robertson, Helen, Vignoli, Marina, Haugk, Beate, Lionetti, Paolo, Hambleton, Sophie, Barge, Dawn, Gennery, Andrew R., Slatter, Mary, Nademi, Zohreh, Flood, Terence J., Jackson, Anthony, Abinun, Mario, Cant, Andrew J.
Publicado 2015

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

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

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

por Goudy, Kevin, Aydin, Didem, Barzaghi, Federica, Gambineri, Eleonora, Vignoli, Marina, Mannurita, Sara Ciullini, Doglioni, Claudio, Ponzoni, Maurilio, Cicalese, Maria Pia, Assanelli, Andrea, Tommasini, Alberto, Brigida, Immacolata, Dellepiane, Rosa Maria, Martino, Silvana, Olek, Sven, Aiuti, Alessandro, Ciceri, Fabio, Roncarolo, Maria Grazia, Bacchetta, Rosa
Publicado 2013

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

por Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, Markert, M. Louise
Publicado 2023

The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

por Lougaris, Vassilios, Pession, Andrea, Baronio, Manuela, Soresina, Annarosa, Rondelli, Roberto, Gazzurelli, Luisa, Benvenuto, Alessio, Martino, Silvana, Gattorno, Marco, Biondi, Andrea, Zecca, Marco, Marinoni, Maddalena, Fabio, Giovanna, Aiuti, Alessandro, Marseglia, Gianluigi, Putti, Maria Caterina, Agostini, Carlo, Lunardi, Claudio, Tommasini, Alberto, Bertolini, Patrizia, Gambineri, Eleonora, Consolini, Rita, Matucci, Andrea, Azzari, Chiara, Danieli, Maria Giovanna, Paganelli, Roberto, Duse, Marzia, Cancrini, Caterina, Moschese, Viviana, Chessa, Luciana, Spadaro, Giuseppe, Civino, Adele, Vacca, Angelo, Cardinale, Fabio, Martire, Baldassare, Carpino, Luigi, Trizzino, Antonino, Russo, Giovanna, Cossu, Fausto, Badolato, Raffaele, Pietrogrande, Maria Cristina, Quinti, Isabella, Rossi, Paolo, Ugazio, Alberto, Pignata, Claudio, Plebani, Alessandro
Publicado 2020

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

por de Beaucoudrey, Ludovic, Puel, Anne, Filipe-Santos, Orchidée, Cobat, Aurélie, Ghandil, Pegah, Chrabieh, Maya, Feinberg, Jacqueline, von Bernuth, Horst, Samarina, Arina, Jannière, Lucile, Fieschi, Claire, Stéphan, Jean-Louis, Boileau, Catherine, Lyonnet, Stanislas, Jondeau, Guillaume, Cormier-Daire, Valérie, Le Merrer, Martine, Hoarau, Cyrille, Lebranchu, Yvon, Lortholary, Olivier, Chandesris, Marie-Olivia, Tron, François, Gambineri, Eleonora, Bianchi, Lucia, Rodriguez-Gallego, Carlos, Zitnik, Simona E., Vasconcelos, Julia, Guedes, Margarida, Vitor, Artur Bonito, Marodi, Laszlo, Chapel, Helen, Reid, Brenda, Roifman, Chaim, Nadal, David, Reichenbach, Janine, Caragol, Isabel, Garty, Ben-Zion, Dogu, Figen, Camcioglu, Yildiz, Gülle, Sanyie, Sanal, Ozden, Fischer, Alain, Abel, Laurent, Stockinger, Birgitta, Picard, Capucine, Casanova, Jean-Laurent
Publicado 2008

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

por Dimitrova, Dimana, Nademi, Zohreh, Maccari, Maria Elena, Ehl, Stephan, Uzel, Gulbu, Tomoda, Takahiro, Okano, Tsubasa, Imai, Kohsuke, Carpenter, Benjamin, Ip, Winnie, Rao, Kanchan, Worth, Austen J. J., Laberko, Alexandra, Mukhina, Anna, Néven, Bénédicte, Moshous, Despina, Speckmann, Carsten, Warnatz, Klaus, Wehr, Claudia, Abolhassani, Hassan, Aghamohammadi, Asghar, Bleesing, Jacob J., Dara, Jasmeen, Dvorak, Christopher C., Ghosh, Sujal, Kang, Hyoung Jin, Markelj, Gašper, Modi, Arunkumar, Bayer, Diana K., Notarangelo, Luigi D., Schulz, Ansgar, Garcia-Prat, Marina, Soler-Palacín, Pere, Karakükcü, Musa, Yilmaz, Ebru, Gambineri, Eleonora, Menconi, Mariacristina, Masmas, Tania N., Holm, Mette, Bonfim, Carmem, Prando, Carolina, Hughes, Stephen, Jolles, Stephen, Morris, Emma C., Kapoor, Neena, Koltan, Sylwia, Paneesha, Shankara, Steward, Colin, Wynn, Robert, Duffner, Ulrich, Gennery, Andrew R., Lankester, Arjan C., Slatter, Mary, Kanakry, Jennifer A.
Publicado 2022

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

por Barzaghi, Federica, Hernandez, Laura Cristina Amaya, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J., Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R., Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M., Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H., Kobayashi, Ichiro, Alonso, Laura, De Heredia, Cristina Diaz, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G., Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J., Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G., Ka1wak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C., Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J., Roncarolo, Maria-Grazia, Bacchetta, Rosa
Publicado 2017