Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

por Sarli, Walter Maria, Ricci, Silvia, Lodi, Lorenzo, Cavone, Federica, Pacillo, Lucia, Giancotta, Carmela, Ubertini, Graziamaria, Baroncelli, Giampiero, Cancrini, Caterina, Azzari, Chiara, Stagi, Stefano
Publicado 2023

In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients

por Fierabracci, Alessandra, Belcastro, Eugenia, Carbone, Elena, Pagliarosi, Olivia, Palma, Alessia, Pacillo, Lucia, Giancotta, Carmela, Zangari, Paola, Finocchi, Andrea, Cancrini, Caterina, Delfino, Domenico Vittorio, Cappa, Marco, Betterle, Corrado
Publicado 2022

Targeted treatment of autoimmune cytopenias in primary immunodeficiencies

por Pacillo, Lucia, Giardino, Giuliana, Amodio, Donato, Giancotta, Carmela, Rivalta, Beatrice, Rotulo, Gioacchino Andrea, Manno, Emma Concetta, Cifaldi, Cristina, Palumbo, Giuseppe, Pignata, Claudio, Palma, Paolo, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina
Publicado 2022

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

por Giancotta, Carmela, Colantoni, Nicole, Pacillo, Lucia, Santilli, Veronica, Amodio, Donato, Manno, Emma Concetta, Cotugno, Nicola, Rotulo, Gioacchino Andrea, Rivalta, Beatrice, Finocchi, Andrea, Cancrini, Caterina, Diociaiuti, Andrea, El Hachem, May, Zangari, Paola
Publicado 2023

Case Report: Successful Treatment With Monoclonal Antibodies in One APDS Patient With Prolonged SARS-CoV-2 Infection Not Responsive to Previous Lines of Treatment

por Rivalta, Beatrice, Amodio, Donato, Giancotta, Carmela, Santilli, Veronica, Pacillo, Lucia, Zangari, Paola, Cotugno, Nicola, Manno, Emma Concetta, Finocchi, Andrea, Bernardi, Stefania, Colagrossi, Luna, Gentile, Leonarda, Russo, Cristina, Perno, Carlo Federico, Rossi, Paolo, Cancrini, Caterina, Palma, Paolo
Publicado 2022

SARS‐CoV‐2 infection and treatment in a cohort of patients with inborn errors of immunity

por Conti, Francesca, Pacillo, Lucia, Amodio, Donato, Rivalta, Beatrice, Moratti, Mattia, Campoli, Caterina, Zama, Daniele, Corsini, Ilaria, Giancotta, Carmela, Bernardi, Stefania, Naviglio, Samuele, Cicalese, Maria Pia, Rabusin, Marco, Aiuti, Alessandro, Cancrini, Caterina, Lanari, Marcello, Viale, Pierluigi, Palma, Paolo, Pession, Andrea, Finocchi, Andrea
Publicado 2022

Urogenital Abnormalities in Adenosine Deaminase Deficiency

por Pajno, Roberta, Pacillo, Lucia, Recupero, Salvatore, Cicalese, Maria P., Ferrua, Francesca, Barzaghi, Federica, Ricci, Silvia, Marzollo, Antonio, Pecorelli, Silvia, Azzari, Chiara, Finocchi, Andrea, Cancrini, Caterina, Di Matteo, Gigliola, Russo, Gianni, Alfano, Massimo, Lesma, Arianna, Salonia, Andrea, Adams, Stuart, Booth, Claire, Aiuti, Alessandro
Publicado 2020

Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up

por Rivalta, Beatrice, Amodio, Donato, Milito, Cinzia, Chiriaco, Maria, Di Cesare, Silvia, Giancotta, Carmela, Conti, Francesca, Santilli, Veronica, Pacillo, Lucia, Cifaldi, Cristina, Desimio, Maria Giovanna, Doria, Margherita, Quinti, Isabella, De Vito, Rita, Di Matteo, Gigliola, Finocchi, Andrea, Palma, Paolo, Trizzino, Antonino, Tommasini, Alberto, Cancrini, Caterina
Publicado 2021

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients

por Cifaldi, Cristina, Rivalta, Beatrice, Amodio, Donato, Mattia, Algeri, Pacillo, Lucia, Di Cesare, Silvia, Chiriaco, Maria, Ursu, Giorgiana Madalina, Cotugno, Nicola, Giancotta, Carmela, Manno, Emma C., Santilli, Veronica, Zangari, Paola, Federica, Galaverna, Palumbo, Giuseppe, Merli, Pietro, Palma, Paolo, Rossi, Paolo, Di Matteo, Gigliola, Locatelli, Franco, Finocchi, Andrea, Cancrini, Caterina
Publicado 2021

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome

por Carrabba, Maria, Dellepiane, Rosa Maria, Cortesi, Manuela, Baselli, Lucia Augusta, Soresina, Annarosa, Cirillo, Emilia, Giardino, Giuliana, Conti, Francesca, Dotta, Laura, Finocchi, Andrea, Cancrini, Caterina, Milito, Cinzia, Pacillo, Lucia, Cinicola, Bianca Laura, Cossu, Fausto, Consolini, Rita, Montin, Davide, Quinti, Isabella, Pession, Andrea, Fabio, Giovanna, Pignata, Claudio, Pietrogrande, Maria Cristina, Badolato, Raffaele
Publicado 2023

Humoral and Cellular Response Following Vaccination With the BNT162b2 mRNA COVID-19 Vaccine in Patients Affected by Primary Immunodeficiencies

por Amodio, Donato, Ruggiero, Alessandra, Sgrulletti, Mayla, Pighi, Chiara, Cotugno, Nicola, Medri, Chiara, Morrocchi, Elena, Colagrossi, Luna, Russo, Cristina, Zaffina, Salvatore, Di Matteo, Gigliola, Cifaldi, Cristina, Di Cesare, Silvia, Rivalta, Beatrice, Pacillo, Lucia, Santilli, Veronica, Giancotta, Carmela, Manno, Emma Concetta, Ciofi Degli Atti, Marta, Raponi, Massimiliano, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina, Perno, Carlo Federico, Moschese, Viviana, Palma, Paolo
Publicado 2021

Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report

por Di Lorenzo, Biagio, Pacillo, Lucia, Milardi, Giulia, Jofra, Tatiana, Di Cesare, Silvia, Gerosa, Jolanda, Marzinotto, Ilaria, Zapparoli, Ettore, Rivalta, Beatrice, Cifaldi, Cristina, Barzaghi, Federica, Giancotta, Carmela, Zangari, Paola, Rapini, Novella, Deodati, Annalisa, Amodio, Giada, Passerini, Laura, Carrera, Paola, Gregori, Silvia, Palma, Paolo, Finocchi, Andrea, Lampasona, Vito, Cicalese, Maria Pia, Schiaffini, Riccardo, Di Matteo, Gigliola, Merelli, Ivan, Barcella, Matteo, Aiuti, Alessandro, Piemonti, Lorenzo, Cancrini, Caterina, Fousteri, Georgia
Publicado 2022

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

por Chiriaco, Maria, Ursu, Giorgiana Madalina, Amodio, Donato, Cotugno, Nicola, Volpi, Stefano, Berardinelli, Francesco, Pizzi, Simone, Cifaldi, Cristina, Zoccolillo, Matteo, Prigione, Ignazia, Di Cesare, Silvia, Giancotta, Carmela, Anastasio, Elisa, Rivalta, Beatrice, Pacillo, Lucia, Zangari, Paola, Fiocchi, Alessandro G., Diociaiuti, Andrea, Bruselles, Alessandro, Pantaleoni, Francesca, Ciolfi, Andrea, D’Oria, Valentina, Palumbo, Giuseppe, Gattorno, Marco, El Hachem, Maya, de Villartay, Jean-Pierre, Finocchi, Andrea, Palma, Paolo, Rossi, Paolo, Tartaglia, Marco, Aiuti, Alessandro, Antoccia, Antonio, Di Matteo, Gigliola, Cancrini, Caterina
Publicado 2022

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency

por Milardi, Giulia, Di Lorenzo, Biagio, Gerosa, Jolanda, Barzaghi, Federica, Di Matteo, Gigliola, Omrani, Maryam, Jofra, Tatiana, Merelli, Ivan, Barcella, Matteo, Filippini, Matteo, Conti, Anastasia, Ferrua, Francesca, Pozzo Giuffrida, Francesco, Dionisio, Francesca, Rovere‐Querini, Patrizia, Marktel, Sarah, Assanelli, Andrea, Piemontese, Simona, Brigida, Immacolata, Zoccolillo, Matteo, Cirillo, Emilia, Giardino, Giuliana, Danieli, Maria Giovanna, Specchia, Fernando, Pacillo, Lucia, Di Cesare, Silvia, Giancotta, Carmela, Romano, Francesca, Matarese, Alessandro, Chetta, Alfredo Antonio, Trimarchi, Matteo, Laurenzi, Andrea, De Pellegrin, Maurizio, Darin, Silvia, Montin, Davide, Marinoni, Maddalena, Dellepiane, Rosa Maria, Sordi, Valeria, Lougaris, Vassilios, Vacca, Angelo, Melzi, Raffaella, Nano, Rita, Azzari, Chiara, Bongiovanni, Lucia, Pignata, Claudio, Cancrini, Caterina, Plebani, Alessandro, Piemonti, Lorenzo, Petrovas, Constantinos, Di Micco, Raffaella, Ponzoni, Maurilio, Aiuti, Alessandro, Cicalese, Maria Pia, Fousteri, Georgia
Publicado 2022

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023